Raras
Buscar doenças, sintomas, genes...
Mastocitose
ORPHA:98292CID-10 · Q82.2CID-11 · 2A21DOENÇA RARA

Neoplasia mieloproliferativa clonal caracterizada pela proliferação e acúmulo de mastócitos neoplásicos em um ou múltiplos órgãos ou sistemas orgânicos. É um grupo heterogêneo de neoplasias, variando desde proliferações cutâneas que podem regredir espontaneamente, até neoplasias agressivas associadas à falência de órgãos e curta sobrevida.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Neoplasia mieloproliferativa clonal caracterizada pela proliferação e acúmulo de mastócitos neoplásicos em um ou múltiplos órgãos ou sistemas orgânicos. É um grupo heterogêneo de neoplasias, variando desde proliferações cutâneas que podem regredir espontaneamente, até neoplasias agressivas associadas à falência de órgãos e curta sobrevida.

Pesquisas ativas
19 ensaios
136 total registrados no ClinicalTrials.gov
Publicações científicas
4.882 artigos
Último publicado: 2026 Apr 16

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
3.0
Europe
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: Q82.2
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
16 sintomas
🧬
Pele e cabelo
16 sintomas
🫃
Digestivo
10 sintomas
🦴
Ossos e articulações
8 sintomas
🫁
Pulmão
2 sintomas
💪
Músculos
2 sintomas

+ 48 sintomas em outras categorias

Características mais comuns

Anormalidade do fígado
Amiloidose
Mieloma múltiplo
Leucemia linfática crônica
Anormalidade do sistema respiratório
Fratura patológica
108sintomas
Sem dados (108)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 108 características clínicas mais associadas, ordenadas por frequência.

Anormalidade do fígadoAbnormality of the liver
AmiloidoseAmyloidosis
Mieloma múltiploMultiple myeloma
Leucemia linfática crônicaChronic lymphatic leukemia
Anormalidade do sistema respiratórioAbnormality of the respiratory system

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico4.882PubMed
Últimos 10 anos200publicações
Pico2025132 papers
Linha do tempo
2026Hoje · 2026🧪 1991Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

6 genes identificados com associação a esta condição.

KITMast/stem cell growth factor receptor KitDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulator

LOCALIZAÇÃO

Cell membraneCytoplasm

VIAS BIOLÓGICAS (5)
Developmental Lineage of Mammary Gland Luminal Epithelial CellsDevelopmental Lineage of Mammary Gland Alveolar CellsTFAP2 (AP-2) family regulates transcription of growth factors and their receptorsSignaling by SCF-KITRegulation of KIT signaling
MECANISMO DE DOENÇA

Piebald trait

Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Muscular
44.5 TPM
Ovário
36.4 TPM
Esôfago - Junção
35.3 TPM
Cérebro - Hemisfério cerebelar
29.8 TPM
Tireoide
28.1 TPM
OUTRAS DOENÇAS (21)
gastrointestinal stromal tumorcutaneous mastocytosisacute myeloid leukemiapiebaldism
HGNC:6342UniProt:P10721
SRSF2Serine/arginine-rich splicing factor 2Candidate gene tested inAltamente restrito
FUNÇÃO

Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich R

LOCALIZAÇÃO

NucleusNucleus, nucleoplasmNucleus speckle

VIAS BIOLÓGICAS (8)
Transport of Mature mRNA derived from an Intron-Containing TranscriptmRNA 3'-end processingRNA Polymerase II Transcription TerminationmRNA Splicing - Major PathwaymRNA Polyadenylation
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
305.9 TPM
Tireoide
279.2 TPM
Baço
274.2 TPM
Útero
267.4 TPM
Ovário
252.6 TPM
OUTRAS DOENÇAS (3)
chronic myelomonocytic leukemiasystemic mastocytosis with an associated clonal hematologic non-mast cell lineage diseaseaggressive systemic mastocytosis
HGNC:10783UniProt:Q01130
TET2Methylcytosine dioxygenase TET2Candidate gene tested inTolerante
FUNÇÃO

Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position

LOCALIZAÇÃO

NucleusChromosome

VIAS BIOLÓGICAS (2)
TET1,2,3 and TDG demethylate DNASpecification of primordial germ cells
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
12.3 TPM
Cervix Ectocervix
10.8 TPM
Vagina
10.4 TPM
Skin Not Sun Exposed Suprapubic
10.3 TPM
Skin Sun Exposed Lower leg
10.2 TPM
OUTRAS DOENÇAS (11)
myelodysplastic syndromeimmunodeficiency 75acute myeloid leukemia with multilineage dysplasiamyelodysplastic syndrome with ring sideroblasts
HGNC:25941UniProt:Q6N021
CBLE3 ubiquitin-protein ligase CBLCandidate gene tested inRestrito
FUNÇÃO

E3 ubiquitin-protein ligase that acts as a negative regulator of many signaling pathways by mediating ubiquitination of cell surface receptors (PubMed:10514377, PubMed:11896602, PubMed:14661060, PubMed:14739300, PubMed:15190072, PubMed:17509076, PubMed:18374639, PubMed:19689429, PubMed:21596750, PubMed:28381567, PubMed:40101708). Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome (PubMed:10514377, Pu

LOCALIZAÇÃO

CytoplasmCell membraneCell projection, ciliumGolgi apparatus

VIAS BIOLÓGICAS (10)
TGF-beta receptor signaling activates SMADsPTK6 Regulates RTKs and Their Effectors AKT1 and DOK1Spry regulation of FGF signalingEGFR downregulationNegative regulation of MET activity
MECANISMO DE DOENÇA

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia.

OUTRAS DOENÇAS (4)
CBL-related disorderjuvenile myelomonocytic leukemiaNoonan syndromeaggressive systemic mastocytosis
HGNC:1541UniProt:P22681
ASXL1Polycomb group protein ASXL1Candidate gene tested inTolerante
FUNÇÃO

Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a co

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
UCH proteinases
MECANISMO DE DOENÇA

Bohring-Opitz syndrome

A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

VIAS REACTOME (1)
OUTRAS DOENÇAS (6)
myelodysplastic syndromeBohring-Opitz syndromeaggressive systemic mastocytosisacute myeloid leukemia with multilineage dysplasia
HGNC:18318UniProt:Q8IXJ9
RUNX1Runt-related transcription factor 1Candidate gene tested inTolerante
FUNÇÃO

Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, inc

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (10)
Pre-NOTCH Transcription and TranslationRegulation of RUNX1 Expression and ActivityRUNX1 regulates genes involved in megakaryocyte differentiation and platelet functionRUNX3 regulates p14-ARFRUNX1 regulates transcription of genes involved in differentiation of keratinocytes
EXPRESSÃO TECIDUAL(Ubíquo)
Glândula salivar
31.0 TPM
Fibroblastos
22.0 TPM
Pulmão
18.9 TPM
Mama
18.8 TPM
Nervo tibial
13.1 TPM
OUTRAS DOENÇAS (6)
acute myeloid leukemiahereditary thrombocytopenia and hematologic cancer predisposition syndromehereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1acute myeloid leukemia with t(8;21)(q22;q22) translocation
HGNC:10471UniProt:Q01196

Medicamentos aprovados (FDA)

2 medicamentos encontrados nos registros da FDA americana.

💊 Gastrocrom (CROMOLYN SODIUM)
💊 CIMETIDINE (CIMETIDINE)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

593 variantes patogênicas registradas no ClinVar.

🧬 KIT: NM_000222.3(KIT):c.620-2A>G ()
🧬 KIT: NM_000222.3(KIT):c.2307del (p.Leu769fs) ()
🧬 KIT: NM_000222.3(KIT):c.438T>A (p.Tyr146Ter) ()
🧬 KIT: NM_000222.3(KIT):c.1801G>A (p.Gly601Arg) ()
🧬 KIT: NM_000222.3(KIT):c.2306dup (p.Leu769fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 143 variantes classificadas pelo ClinVar.

29
100
14
Patogênica (20.3%)
VUS (69.9%)
Benigna (9.8%)
VARIANTES MAIS SIGNIFICATIVAS
KIT: NM_000222.3(KIT):c.590C>T (p.Ser197Leu) [Conflicting classifications of pathogenicity]
KIT: NM_000222.3(KIT):c.1231+13A>T [Conflicting classifications of pathogenicity]
KIT: NM_000222.3(KIT):c.555T>G (p.His185Gln) [Conflicting classifications of pathogenicity]
KIT: NM_000222.3(KIT):c.2138C>T (p.Ser713Phe) [Conflicting classifications of pathogenicity]
KIT: NM_000222.3(KIT):c.2781G>T (p.Gln927His) [Uncertain significance]

Vias biológicas (Reactome)

72 vias biológicas associadas aos genes desta condição.

PIP3 activates AKT signaling Signaling by SCF-KIT Regulation of KIT signaling Constitutive Signaling by Aberrant PI3K in Cancer RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Dasatinib-resistant KIT mutants Imatinib-resistant KIT mutants KIT mutants bind TKIs Masitinib-resistant KIT mutants Nilotinib-resistant KIT mutants Regorafenib-resistant KIT mutants Signaling by kinase domain mutants of KIT Sunitinib-resistant KIT mutants Signaling by juxtamembrane domain KIT mutants Sorafenib-resistant KIT mutants Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by extracellular domain mutants of KIT Transcriptional and post-translational regulation of MITF-M expression and activity Developmental Lineage of Mammary Gland Luminal Epithelial Cells Developmental Lineage of Mammary Gland Alveolar Cells Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway mRNA 3'-end processing Processing of Capped Intron-Containing Pre-mRNA RNA Polymerase II Transcription Termination mRNA Polyadenylation Dengue Virus-Host Interactions TET1,2,3 and TDG demethylate DNA Specification of primordial germ cells Interleukin-6 signaling Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Spry regulation of FGF signaling EGFR downregulation TGF-beta receptor signaling activates SMADs Constitutive Signaling by EGFRvIII Negative regulation of FGFR1 signaling Negative regulation of FGFR2 signaling Negative regulation of FGFR3 signaling Negative regulation of FGFR4 signaling Negative regulation of MET activity PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis InlB-mediated entry of Listeria monocytogenes into host cell Regulation of signaling by CBL Signaling by CSF1 (M-CSF) in myeloid cells Negative regulation of FLT3 FLT3 signaling by CBL mutants UCH proteinases Pre-NOTCH Transcription and Translation SLC-mediated transport of organic cations RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) RUNX1 regulates estrogen receptor mediated transcription Regulation of RUNX1 Expression and Activity RUNX1 regulates expression of components of tight junctions RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX1 regulates transcription of genes involved in BCR signaling RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX1 regulates transcription of genes involved in interleukin signaling RUNX1 regulates transcription of genes involved in WNT signaling RUNX2 regulates genes involved in differentiation of myeloid cells RUNX3 regulates p14-ARF Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis SARS-CoV-1 activates/modulates innate immune responses Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells)

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 31
2Fase 25
1Fase 12
·Pré-clínico11
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Mastocitose

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

14 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

136 ensaios clínicos encontrados, 19 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
2.048 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.048

#1

Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.

Frontiers in cell and developmental biology2026

Mastocytosis is a rare clonal hematological neoplasm, characterized by cutaneous manifestations in children and categorized as: maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM) and mastocytoma. Systemic mastocytosis (SM) typically occurs in adults with c-KIT D816V mutation. Additional genetic mutations (TET2, NRAS, SF3B1, ASXL1, etc.) have been detected using Next-Generation Sequencing (NGS) in the adult population while limited information is available in the pediatric setting. 36 patients (pts) with pediatric mastocytosis diagnosed between 1997 and 2021 were included. Peripheral blood samples were collected to detect c-KIT D816V mutation, using both RT-PCR and ddPCR techniques, and to investigate other molecular mutations using NGS panel for rare and myeloid genes. Median age of lesion onset was 4.7 months (range birth-17.8 years). 58% of the cohort underwent cutaneous biopsy after a median 3.77 months from lesion onset (range 2.49 months-11.6 years). 20 (55%) were classified as MPCM, 10 (28%) as DCM and 6 (17%) as mastocytoma. Median tryptase value at the onset was 5 ng/mL: MPCM (range 1.2-141 ng/mL) vs. DCM (range 2.71-19.4 ng/mL) vs. mastocytoma (range 3.8-7.3 ng/mL). Two MPCM pts developed indolent SM (ISM) after 10 and 20 years from the onset of disease. RT-PCR identified c-KIT D816V mutation in 4 pts (2 MPCM, 1 DCM, 1 ISM). NGS revealed the precedent mutation in 3 pts, c-KIT D816Y and c-KIT Y553C in 2 pts. An additional 10 myeloid gene mutations were detected by NGS: 5 already known (ASXL1 G1397S; JAK2 L393V; c-KIT D816Y; LNK E208Q; TET2 Y867H) and 5 not previously described (ETV6 A215P; c-KIT Y553C; NFE2 I291T; SH2B3 G382D; SH2B3 L438V). A single mutation was found in 7 pts (3 MPCM, 3 DCM, 1 ISM), while two or more mutations in 3 DCM pts. Overall, 9/36 pts (5 DCM, 3 MPCM, 1 mastocytoma) presented spontaneous complete regression of cutaneous lesions after a median time of 25 months (range 17 months-25 years). c-KIT mutations resulted in 35% of the children tested. The RT-PCR technique resulted more sensitive in finding c-KIT D816V, while NGS in detecting other mutations whose prognostic roles require further investigation.

#2

Multiphasic anaphylaxis in the emergency and intensive care setting.

BMJ case reports2026 Feb 26

Anaphylaxis, the most severe form of an allergic reaction, is a potentially life-threatening systemic reaction requiring prompt and effective management. A subset of cases shows a recurrence of symptoms despite adequate care and full clinical response. These biphasic or even multiphasic courses provide a unique challenge for clinicians, especially as reported incidence varies, risk factors are unclear and clear management strategies are lacking in current guidelines. This is especially true for multiphasic anaphylaxis presenting with multiple relapses into anaphylaxis despite adequate response to standard treatment with epinephrine. Due to the relatively rare occurrence of multiphasic anaphylaxis, case reports providing examples of clinical management can provide an important source of insight into this clinical problem.In this study, we present the case of a woman in her 60s presenting with multiphasic anaphylaxis to clarithromycin, with subsequent analysis showing a high likelihood of systemic mastocytosis, though she did not meet formal diagnostic criteria.

#3

Skeletal Involvement in Systemic Mastocytosis: Pathophysiology, Clinical Management, Standards of Care, and Novel Therapeutic Strategies.

Cells2026 Feb 06

Systemic mastocytosis comprises a group of clonal mast cell disorders characterized by multisystem involvement. Bone involvement represents a major source of morbidity, particularly in young men affected by indolent systemic mastocytosis. This review provides an integrated and up-to-date overview of SM-related bone disease. We dissect the dual and context-dependent role of mast cells in bone remodeling, detailing how they promote osteoclastogenesis, suppress osteoblast function, and, in advanced disease, drive osteosclerosis. We critically appraise available treatments, including classic anti-resorptive therapy and emerging anabolic strategies. We further discuss the transformative impact of KIT-directed tyrosine kinase inhibitors, particularly avapritinib, which has demonstrated for the first time the ability to reverse not only osteoporosis but also osteosclerosis. Finally, we explore the emerging role of machine learning models in SM, proposing their application to individualized prediction of osteoporosis and fracture risk in SM. By bridging clinical care, bone biology, and therapeutic advances, this review underscores the need for a paradigm shift in which SM-related bone disease is recognized as a dynamic process requiring early identification, integrated risk stratification, and coordinated use of anti-resorptive, disease-modifying, and data-driven precision approaches to prevent fractures and improve long-term outcomes and quality of life in this delicate category of patients.

#4

Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.

Blood advances2026 Jan 28

Advanced systemic mastocytosis (AdvSM), a clonal hematologic neoplasm driven predominantly by D816V-mutant KIT, is often characterized by organ damage. Associated hematologic neoplasms (AHN; usually myeloid) are often present, leading to poor survival. We report on the oral, highly selective, potent KIT D816V inhibitor avapritinib (200-mg once-daily starting dose) with >4 years follow-up from the fully enrolled PATHFINDER (NCT03580655) study. Endpoints included overall response rate (ORR; primary), duration of response (DOR), progression-free survival (PFS), overall survival (OS), changes in objective biomarkers of disease, and safety (all secondary). Of 107 patients with AdvSM (including 71 [66%] with SM-AHN; overall population median follow-up: 49 months), 83 were response evaluable. ORR was 73% (95% confidence interval [95% CI], 63%-83%). Median DOR was 58 months, PFS 51 months, and OS 62 months. Disease progression occurred in 21/107 patients, predominantly in SM-AHN and largely driven by the AHN. Reductions in objective biomarkers of disease were observed. Most frequent (≥30% patients) treatment-emergent adverse events (TEAEs) (any grade; grade ≥3) were thrombocytopenia (58%; 31%); periorbital edema (57%; 6%), anemia (54%; 33%), peripheral edema (48%; 2%), and diarrhea (36%; 5%). Adverse events of special interest were cognitive effects (34%; 8%) and intracranial bleeds (4%, 2%). Eleven (10%) patients experienced TEAEs leading to death, of which 1 was deemed related to avapritinib by the principal investigator. With 4-year follow-up, avapritinib-treated patients with AdvSM experienced deep and durable responses and a favorable benefit-risk profile.

#5

Investigating instruments for evaluation of gastrointestinal burdens in patients with systemic mastocytosis: an exploratory multimethod study.

Scandinavian journal of gastroenterology2026 Feb

Systemic mastocytosis (SM) is a rare hematopoietic disease, in which gastrointestinal (GI) problems are common. There are no valid instruments for assessing GI problems in patients with SM. As the symptoms often mimic irritable bowel syndrome (IBS), the objective was to assess the validity of instruments designed to measure IBS related GI problems in this group of patients. The study was performed as an exploratory multimethod study. The Gastrointestinal Symptom Rating Scale (GSRS) and the Visceral Sensitivity Index (VSI) were found to be the most appropriate and were administered to 393 adults with SM. The response rate was 78%. Of these, 147 (48%) reported having GI-problems due to SM and were thus included in this study. Reliability was assessed using Cronbach's alpha, whereas construct validity was examined through exploratory factor analysis. Internal consistency measured with Cronbach's alpha coefficient was overall good/excellent for the GSRS total scale (α = 0.88) and subscales (α = 0.72-0.84) and for the VSI (α = 0.93). The exploratory factor analysis revealed four factors for the GSRS (indigestion, diarrhea, constipation, pain/reflux) and two factors for the VSI (worries related to internal GI symptoms, external factors related to GI problems). Based on our results, we propose using the GSRS for measuring physical GI problems and the VSI for measuring psychosocial consequences and/or worries related to GI problems in the SM population. The instruments could be used to highlight GI problems in both clinical care and research. Trial registration number: NCT06065007.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC3.217 artigos no totalmostrando 196

2026

Anaphylaxis events in the PIONEER study of avapritinib in indolent systemic mastocytosis.

The World Allergy Organization journal
2026

Management Strategy for Anaphylaxis in a Patient With Suspected or Confirmed Mastocytosis: A Case Report.

The American journal of case reports
2026

Characterization of CD123 expression by mast cells in systemic mastocytosis with multicolor flow cytometry.

Cytometry. Part B, Clinical cytometry
2026

Regional disparities in access to epinephrine auto-injectors for children and adults in Italy.

European annals of allergy and clinical immunology
2026

Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.

Frontiers in cell and developmental biology
2026

Mast Cell Mediators and Their Diagnostic Utility in Clonal and Nonclonal Mast Cell Activation Disorders.

Current allergy and asthma reports
2026

Role of KIT signaling in ovarian development and function: Insights from multisystem biology.

Biology of reproduction
2026

Presumed tumor-infiltrating clonal hematopoiesis unmasking a concomitant systemic mastocytosis with associated myeloid neoplasm in a patient with metastatic melanoma.

Virchows Archiv : an international journal of pathology
2026

Aggressive Systemic Mastocytosis Presenting as Diffuse Osteoblastic Bone Disease: A Diagnostic Pitfall Mimicking Metastatic Cancer.

European journal of case reports in internal medicine
2025

Unexplained Syncope in Mastocytosis: The Role of Early Dermatological Recognition.

Acta dermatovenerologica Croatica : ADC
2026

Hereditary Alpha-Tryptasemia and Mastocytosis: What We Know and What We Need To Learn.

Current allergy and asthma reports
2026

Investigational Approaches in Treatment of Nonadvanced Mastocytosis.

Current allergy and asthma reports
2026

Multiphasic anaphylaxis in the emergency and intensive care setting.

BMJ case reports
2026

CD25+ mast cell hyperplasia in myeloid/lymphoid neoplasm with PDGFRA rearrangement mimicking systemic mastocytosis.

Blood
2026

A Continuous Oral Regimen of High-Dose Cromolyn Sodium Is Effective for Some Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Patients With Mast Cell Activation Syndrome.

Cureus
2026

Soluble FcεRI is increased in advanced mastocytosis and acts as a negative regulator of mast cell expansion and activation.

The Journal of allergy and clinical immunology
2026

Cytoreduction is a Valid Option for Treatment and Prevention of Anaphylaxis in Systemic Mastocytosis: Case Report and Literature Review.

Clinical reviews in allergy &amp; immunology
2026

Prognostic Value of Combining Serum Tryptase and Bone Mineral Density in Predicting Fractures in Systemic Mastocytosis.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
2026

Systemic Mastocytosis, KIT and the Effects of KIT Tyrosine Kinase Inhibitors on Mast Cell and Basophil Activation.

Current allergy and asthma reports
2026

Avapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study.

Journal of the American Academy of Dermatology
2026

Skeletal Involvement in Systemic Mastocytosis: Pathophysiology, Clinical Management, Standards of Care, and Novel Therapeutic Strategies.

Cells
2026

Case report: A case of mast cell leukemia treated with avapritinib: from diagnostic challenge to transplantation.

Frontiers in oncology
2026

[Aggressive systemic mastocytosis complicated with acute myeloid leukemia harboring the RUNX1::RUNX1T1 fusion gene: a case report].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2026

Nemolizumab as an Alternative Therapeutic Option for Indolent Systemic Mastocytosis.

Cureus
2026

Enhanced PIEZO1 expression in mast cells of mastocytosis skin lesions: Relevance to Darier's sign.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

ISM-1 expression in cutaneous mastocytosis: Diagnostic potential and comparison with CD117.

Medicine
2026

Relapse of Acute Myeloid Leukemia With Concomitant Systemic Mastocytosis Five Years Post Allogenic Hematopoietic Stem Cell Transplantation.

Case reports in hematology
2025

Journal Club: Mastocytosis: across the spectrum: pathobiology, clinical evaluation, and evolving therapies.

European journal of dermatology : EJD
2026

Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.

Blood advances
2026

Comparative Analysis of Pediatric and Adult Mastocytosis: Clinical Presentation, Triggers, and Treatment Patterns from a Tertiary Care Registry.

Children (Basel, Switzerland)
2026

Evidence for dysbiosis in the gut microbiome of patients with systemic mastocytosis.

The journal of allergy and clinical immunology. Global
2026

Adult-onset cutaneous mastocytosis presenting as vulvar papules.

American journal of obstetrics and gynecology
2025

Case Report: A rare case of synchronous ovarian mixed germ cell tumor and mast cell leukemia in a pediatric patient.

Frontiers in oncology
2026

KIT Mutant/Core binding factor-negative acute myeloid leukemia might be a complex subgroup with dismal prognosis: a single-center retrospective analysis.

Annals of hematology
2026

Association between Ehlers-Danlos syndrome and mast cell activation syndrome: Is there scientific evidence?

Revista clinica espanola
2026

[Orthostatic macules on the legs].

La Revue de medecine interne
2026

Refractory cutaneous symptoms in systemic mastocytosis.

JAAD case reports
2026

Estimation of serum tryptase reference intervals via an indirect method reveal age- and sex-dependent upper limits.

The Journal of allergy and clinical immunology
2026

Systemic mastocytosis for the practicing clinician: overview, diagnostic features, prognostication and antiproliferative treatment in the era of targeted therapy.

Leukemia &amp; lymphoma
2026

Scroll, like, diagnose? Evaluating mast cell activation syndrome information on TikTok.

Allergy and asthma proceedings
2026

Diagnosis, Prognostication, and Management of Patients With Mastocytosis: Status 2026.

The journal of allergy and clinical immunology. In practice
2026

Serum Mas-related G protein-coupled receptor X2 concentration in drug-induced immediate hypersensitivity reactions.

Polish archives of internal medicine
2025

Off-label applications of omalizumab: Current insights and perspectives.

The World Allergy Organization journal
2025

Evaluation and differential diagnosis of eosinophilia: A tertiary allergy center experience.

Tuberkuloz ve toraks
2026

Key Pediatric Dermatologic Conditions: A Clinical Review: Part I.

Pediatric annals
2026

Spontaneous and experimentally induced lesions in NOD-scid gamma and other NOD-derived mouse strains.

Veterinary pathology
2025

Evaluating the Clinical Relevance of Elevated Mucosal Mast Cells in the Gastrointestinal Tract.

Journal of clinical gastroenterology
2025

Avapritinib in the treatment of systemic mastocytosis with associated acute myeloid leukemia after poor graft function following allogeneic hematopoietic stem cell transplantation: a case study and review of the literature.

Frontiers in oncology
2025

Avapritinib and corticosteroids in advanced systemic mastocytosis with tumoral CMML and associated thrombocytopenia.

Oxford medical case reports
2025

Diagnostic Challenges in a Young Man with a Suspected Mast Cell Disorder, Dysplastic Bone Marrow Morphology, and a ZRSR2 Mutation.

Hematology reports
2026

Mastocytosis: Imaging Spectrum and Diagnostic Insights.

Radiographics : a review publication of the Radiological Society of North America, Inc
2025

Alpha-Tryptase Overexpression as a Modifier of Mast Cell-Mediated Reactions.

The journal of allergy and clinical immunology. In practice
2025

Correlates of organ damage in patients with advanced systemic mastocytosis enrolled in clinical trials of avapritinib.

Blood neoplasia
2026

Investigating instruments for evaluation of gastrointestinal burdens in patients with systemic mastocytosis: an exploratory multimethod study.

Scandinavian journal of gastroenterology
2026

New insight into role of mast cells in erythrocyte homeostasis and clearance under oxidative stress conditions in vivo.

Biochemistry and biophysics reports
2026

Prevalence of KIT D816V in anaphylaxis or systemic mast cell activation.

The Journal of allergy and clinical immunology
2025

Critical role of the mast cell/tryptase/PAR2 axis in anastrozole-induced pain.

British journal of pharmacology
2026

Near-Fatal Mastocytosis Mimicking as Malignant Vasovagal Syncope.

JACC. Case reports
2025

Is Bruton tyrosine kinase a potential target to treat mast cell neoplasms? Systemic mastocytosis associated with chronic lymphoid leukemia successfully treated with acalabrutinib monotherapy: a case report and review of the literature.

Haematologica
2026

A Case of Mastocytosis Relapsed in Adulthood After Long-Term Remission in Childhood.

The Journal of dermatology
2025

A Treatment Approach for Severe Pain in Mast Cell Activation Syndrome: A Case Report.

A&amp;A practice
2026

Biconcave vertebral fractures as a possible distinctive feature of indolent systemic mastocytosis compared with primary osteoporosis.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2026

Denosumab as a Potential Disease-Modifying Treatment in Indolent Systemic Mastocytosis-Related Osteoporosis.

JCEM case reports
2026

Darier's Sign in Mastocytosis.

Journal of cutaneous medicine and surgery
2025

From mechanism to management: CEREMAST perspectives on the intersection of HαT and clonal mast cell disorders.

Frontiers in allergy
2025

Inflammatory disorders in IDH-mutated myeloid neoplasms: Characteristics and response to IDH inhibitors.

HemaSphere
2025

Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract.

American journal of clinical pathology
2025

Cardiovascular manifestations in mast cell activation disease: key insights for cardiologists and angiologists.

Frontiers in cardiovascular medicine
2026

Updates on Kinase Inhibitors in Allergy.

The journal of allergy and clinical immunology. In practice
2026

Management of Mastocytosis and Mast Cell Activation in Children.

The journal of allergy and clinical immunology. In practice
2026

Diagnosis and Management of Patients With Mast Cell Activation Syndromes: Status 2026.

The journal of allergy and clinical immunology. In practice
2026

Utility of quantifying mast cells in gastrointestinal biopsies in patients with suspected mast cell activation disorder.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Diagnosis and management of mast cell activation syndrome (MCAS) in Canada: a practical approach.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2025

Autonomic function testing and symptom severity in patients with suspected mast cell activation disorders.

Autonomic neuroscience : basic &amp; clinical
2025

Management of skeletal-related events and fracture prevention in systemic mastocytosis.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2025

Diffuse Cutaneous Mastocytosis with Bullous Presentation: A Rare Case Report.

Indian journal of dermatology
2025

Distinct Tryptase Gene Copy Number Variations Correlate With Tryptase Levels in a Population-Based Cohort.

Allergy
2025

Chronic Anaphylaxis With Indolent Systemic Mastocytosis: A Case Report.

Case reports in hematology
2025

Langerhans Cell Histiocytosis and Mastocytosis: A Rare Association.

Dermatology practical &amp; conceptual
2025

Using natural language processing to identify symptoms in systemic mastocytosis.

JAMIA open
2025

Lampson B, Zakharyan A, Shimony SO, Shi H, Deangelo D. Analysis of avapritinib clinical trial data generates a highly accurate predictive model for advanced systemic mastocytosis versus indolent systemic mastocytosis based on peripheral blood testing. Blood. 2024;144(suppl 1):107.

Blood
2025

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.

Blood cancer journal
2026

KIT-Targeting Drugs in the Management of Nonadvanced and Advanced Systemic Mastocytosis.

The journal of allergy and clinical immunology. In practice
2025

Unmasking mast cell infiltrates: augmented reality and AI in GI endoscopy for systemic mastocytosis.

Annals of medicine and surgery (2012)
2025

Pre-diagnostic and non-advanced systemic mastocytosis without cutaneous involvement have an increased risk of anaphylaxis.

Frontiers in allergy
2025

Access to a protected setting vaccination for allergic patients: Evaluation of appropriateness. The experience of Bari Policlinico University Hospital.

Human vaccines &amp; immunotherapeutics
2025

Final safety and efficacy results from a phase 1/2 study of tagraxofusp, a CD123-targeted therapy, for myelofibrosis.

Blood neoplasia
2025

Case Report: Refractory systemic nmastocytosis with AML1::ETO+ acute myeloid leukemia driven by rare KIT mutation: remarkable therapeutic efficacy of avapritinib.

Frontiers in pediatrics
2025

Challenges in Cutaneous Mastocytosis.

Immunology and allergy clinics of North America
2026

Burden of childhood cutaneous mastocytosis: Severity and caregivers' quality of life.

The journal of allergy and clinical immunology. In practice
2026

PSMA-positive bone lesions unmasked: systemic mastocytosis mimicking metastatic prostate cancer.

European journal of nuclear medicine and molecular imaging
2025

Anesthetic Considerations for Cesarean Section in a Woman With Systemic Mastocytosis.

Cureus
2026

Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.

Pediatric blood &amp; cancer
2025

Safety of Drug Provocation Tests in Adults With and Without Clonal Mast Cell Disorders.

Allergy
2025

Practical diagnostic approach to assess myeloid and precursor cell neoplasms on trephine bone marrow biopsies: reflection of middle European reality.

Journal of hematopathology
2025

Gender and Allergy: Mechanisms, Clinical Phenotypes, and Therapeutic Response-A Position Paper from the Società Italiana di Allergologia, Asma ed Immunologia Clinica (SIAAIC).

International journal of molecular sciences
2025

Myeloid Neoplasms with Evidence of the Additive/Cumulative Effect of Molecular Genetic Alterations That "Pave the Way" to a Specific Disease Category or Entity: Lessons Learned from Cases Submitted to the 22nd Meeting of the European Association for Haematopathology/Society of Hematopathology Bone Marrow Workshop Organized by the European Bone Marrow Working Group, Dubrovnik 2024.

Pathobiology : journal of immunopathology, molecular and cellular biology
2026

Cendakimab (anti-IL-13) administration improves esophageal gene expression in eosinophilic esophagitis.

The Journal of allergy and clinical immunology
2025

Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review.

Pediatric dermatology
2026

Artificial intelligence predicts c-KIT exon 11 genotype by phenotype in canine cutaneous mast cell tumors: Can human observers learn it?

Veterinary pathology
2025

Diagnosing Systemic Mastocytosis: State of the Art.

International journal of laboratory hematology
2025

c-KIT Small Molecule Inhibitors as a Therapeutic Strategy for Melanoma: Clinical Insights, SAR, and Future Directions.

Archiv der Pharmazie
2025

French guidelines for the management of nonadvanced mastocytosis in adults.

Orphanet journal of rare diseases
2025

Next Generation Sequencing of Genes With Epigenetic Alterations in Mastocytosis.

Clinical and translational allergy
2025

Role of Mast Cells in Human Health and Disease: Controversies and Novel Therapies.

International journal of molecular sciences
2026

Leukocytosis, Monocytosis, and Eosinophilia in Systemic Mastocytosis: Analysis of Phenotype, Genetics and Prognosis in 596 Patients From the GREM Registry.

The journal of allergy and clinical immunology. In practice
2025

Incidental detection of systemic mastocytosis in appendectomy.

Medicina clinica
2025

Allogeneic haematopoietic cell transplantation in advanced systemic mastocytosis in the new era: A CIBMTR study.

British journal of haematology
2025

Uncommon Presentation of Mastocytosis: Focus on the Xanthelasmoid Variant.

Cureus
2025

Avapritinib reduces symptoms and mast cell burden in systemic mastocytosis.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2025

Update in stinging insect hypersensitivity.

Allergy and asthma proceedings
2025

Understanding Cutaneous Mastocytosis: A Case Report on the Symptoms and Diagnosis of a Rare Disease.

Cureus
2025

KIT-Negative Systemic Mastocytosis Associated With Acute Myeloid Leukemia.

Case reports in oncological medicine
2025

Aggressive Systemic Mastocytosis Presenting as Pyrexia of Unknown Origin and Sclerotic Bone Lesions: An Uncommon Presentation of a Rare Haematological Disorder.

Cureus
2026

Crystal-Storing Histiocytosis of Gastrointestinal Tract: Report of 2 Patients and Literature Review.

International journal of surgical pathology
2025

Tissue-Resident Myeloid and Histiocytic Cells in Health and Disease: Novel Emerging Concepts.

American journal of hematology
2026

Diffuse Gastric Uptake on 18 F-FDG PET/CT Caused by Involvement of Mastocytosis in a Patient With Systemic Mastocytosis.

Clinical nuclear medicine
2025

Diagnosis, management and the burden of symptoms of mastocytosis from the physician's perspective: A nationwide study.

British journal of haematology
2025

Assessment of the metabolic stability of avapritinib in human liver microsomes using a fast and green UPLC-MS/MS method: screening for structural alarms associated with metabolic lability and in silico toxicity.

Analytical methods : advancing methods and applications
2025

Bone marrow mastocytosis associated with primary cutaneous follicle center lymphoma: an unusual case report.

Annals of hematology
2026

Preclinical Antitumor Efficacy of a Novel Anti-c-Kit Antibody-Drug Conjugate, NN3201, in c-Kit-Positive Tumors.

Molecular cancer therapeutics
2026

Re: "Increased risk of skin cancer in mastocytosis: A large-scale retrospective cohort study of over 20,000 patients".

Journal of the American Academy of Dermatology
2025

Mast Cell Leukemia: Comprehensive Review of Literature With Current Insights and Updates on Management.

Journal of hematology
2025

Gastric biopsies with prominent eosinophils: Clinicopathologic features and response to therapy.

Histopathology
2025

Successful venom immunotherapy with avapritinib in a patient with systemic mastocytosis.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Real-world characteristics of systemic mastocytosis in Romania: insights from a reference-center-based descriptive study.

Journal of medicine and life
2025

Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Virchows Archiv : an international journal of pathology
2025

Gallbladder Involvement in Aggressive Systemic Mastocytosis.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Innovative Therapeutic Approaches in Systemic Mastocytosis: an Updated Review.

Maedica
2025

Systemic mastocytosis in paediatric acute myeloid leukaemia with RUNX1::RUNX1T1 fusion.

Pathology
2026

Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.

The journal of allergy and clinical immunology. In practice
2025

Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features.

American journal of medicine open
2025

Mastocytic enterocolitis in a patient with chronic diarrhoea.

BMJ case reports
2025

Evaluating Melanoma Risk in Adult Mastocytosis: Potential Impact of Detection Bias - A Registry-based Study (Sweden).

Acta dermato-venereologica
2026

Neonatal Aggressive Systemic Mastocytosis Treated With Midostaurin and Systematic Review of the Literature.

Pediatric dermatology
2025

Improved diagnostic screening and classification of clonal mast cell diseases by ultrasensitive KIT p.D816V detection.

Blood
2025

The Pulmonary Manifestation of Mastocytosis: Experiences of the National Reference Centre of Excellence.

Journal of clinical medicine
2025

Unmasking systemic mastocytosis: a case of gastrointestinal involvement misdiagnosed as achalasia.

Journal of surgical case reports
2025

Systemic mastocytosis with an associated myeloid neoplasm: Report from the XVI European Bone Marrow Working Group Course and Workshop, Barcelona 2023.

American journal of clinical pathology
2025

Well-differentiated systemic mastocytosis: Genetics, mast cell immunophenotypes, and KIT autophosphorylation.

The Journal of allergy and clinical immunology
2025

Mast cell conditions and drug allergy.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Midostaurin in daily clinical practice of patients with advanced systemic mastocytosis.

British journal of haematology
2025

Is blood vitamin B6 a marker of interest for individualized psoriasis disease care management in cardiovascular disease prevention?

Clinical nutrition (Edinburgh, Scotland)
2025

When relief is out of reach: living with chronic itch.

Skin health and disease
2025

The evaluation, management, and future of indolent systemic mastocytosis.

Annals of hematology
2025

Digital polymerase chain reaction enhances analysis of the cKIT D816V mutation in systemic mastocytosis patients: Clinical insights.

Hematology, transfusion and cell therapy
2025

Tyrosine Kinase Inhibitors for the Treatment of Mast Cell Diseases: Review and Update.

Journal of investigational allergology &amp; clinical immunology
2025

Clinical and Biological Characteristics of Four Patients with Aggressive Systemic Mastocytosis Treated with Midostaurin.

Biomedicines
2025

Schnitzler syndrome - a rare cause of chronic urticaria. Case report.

Oxford medical case reports
2025

Avapritinib versus midostaurin or cladribine in advanced systemic mastocytosis: A retrospective real-world external control study.

Leukemia research
2025

The Sting Challenge Test Shows High Negative Predictive Value in Patients Receiving Venom Immunotherapy.

Journal of investigational allergology &amp; clinical immunology
2025

Gastroprotective effect of polysaccharides from Agaricus blazei Murill against ethanol-induced gastric ulcer in mice.

International journal of biological macromolecules
2025

Utility of glucagon-like-peptide-1-receptor agonists in mast cell activation syndrome.

The American journal of the medical sciences
2025

Case report: Experience of a rare case of primary acute mast cell leukemia.

Leukemia research reports
2025

Hereditary α-Tryptasemia and Peripheral Blood KIT D816V Mutation in Patients with Pediatric Mastocytosis.

International journal of molecular sciences
2025

Hymenoptera anaphylaxis and mast cell activation disorders.

Current opinion in allergy and clinical immunology
2025

Critical Pitfalls in the Flow Cytometric Analysis of Mast Cells in Patients With Systemic Mastocytosis.

Cytometry. Part A : the journal of the International Society for Analytical Cytology
2025

Evolution of mast cell research associated with the Laboratory of Allergic Diseases, 1985-2022: Summary of the 2023 NIAID Symposium.

The Journal of allergy and clinical immunology
2025

The number of vertebral fractures in indolent systemic mastocytosis is influenced by presence of the KIT-mutation.

Bone
2025

The Use of Biologic Therapeutic Regimens in Cutaneous and Systemic Mastocytosis: A Scoping Review.

Journal of drugs in dermatology : JDD
2025

Idiopathic mast cell activation syndrome in real-life practice: clinical features and management.

Allergy and asthma proceedings
2025

[Avapritinib for systemic mastocytosis with an associated myelodysplastic/myeloproliferative neoplasm: a case report and literature review].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2025

Hereditary alpha-tryptasemia and monoclonal mast cell disorders.

Frontiers in allergy
2025

Systemic Mastocytosis in 910 Patients: Prognostic Contribution of the International Consensus Classification in the Context of the Mayo Alliance Prognostic System.

American journal of hematology
2025

Patient and Advanced Practitioner Perspectives on Symptom Burden and Symptom Management in Indolent Systemic Mastocytosis.

Journal of the advanced practitioner in oncology
2025

Integrating a Rare Disease into Practice: Development of a Toolkit for Systemic Mastocytosis.

Journal of the advanced practitioner in oncology
2025

Management of indolent mastocytosis and mast cell activation syndrome: A clinical yardstick.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Pathogenic Mechanisms of Systemic Mastocytosis: Unraveling the Genetic Complexity, Bone Marrow Microenvironment, and Clinical Challenges.

European journal of haematology
2025

Idiopathic cutaneous Mastocytosis mimicking infantile psoriasis in a six-month-old male: a rare presentation.

Oxford medical case reports
2025

Patient-Reported Outcomes and Provider Perceptions of Systemic Mastocytosis: Results From the PRISM Study.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
2025

Avapritinib monotherapy induces rapid and deep remission of heavily treated, KIT D816H-mutated t(8;21) acute myeloid leukemia, a case report and literature review.

Annals of hematology
2025

Indolent Mastocytosis and Bone Health: Molecular Mechanisms and Emerging Treatment Options.

International journal of molecular sciences
2025

Severe Anemia With Intraosseous-Intramuscular Hemorrhage in a Patient With Kit-C-Negative Systemic Mastocytosis.

Cureus
2025

Non allergic gastrointestinal manifestations of hereditary alpha-tryptasemia.

Frontiers in allergy
2025

Telangiectasia Macularis Eruptiva Perstans Following Radiotherapy: Atypical Presentation of a Rare Condition.

Cureus
2025

Mastocytosis: Part II: Diagnosis and Management of Mastocytosis through a Multidisciplinary Lens.

Journal of the American Academy of Dermatology
2025

Mastocytosis: Part I: Pathogenesis, Clinical Presentation and Classification.

Journal of the American Academy of Dermatology
2025

Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.

British journal of haematology
2025

Treatment of indolent systemic mastocytosis with sarilumab is not supported in a randomized trial.

The journal of allergy and clinical immunology. Global
2025

Different clearance of KITD816V mutation and tryptase levels after haematopoietic cell transplantation in patients with systemic mastocytosis with associated haematological neoplasm.

British journal of haematology
2025

Telangiectatic Mastocytosis: If It Is Not Mastocytosis, What Is It? Comment on Brockow et al. Challenges in the Diagnosis of Cutaneous Mastocytosis. Diagnostics 2024, 14, 161.

Diagnostics (Basel, Switzerland)
2025

Atypical presentation of Olmesartan-induced gastritis and enteropathy.

Acta gastro-enterologica Belgica
2025

Basophil Activation Test: Bridging Allergy and Oncology for Diagnostic, Therapeutic and Prognostic Applications in AllergoOncology: An EAACI Position Paper.

Allergy
2025

Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.

Frontiers in allergy
2025

Laser Therapy for Cutaneous Mastocytosis: A Systematic Review.

Journal of cutaneous medicine and surgery
2025

Safety and efficacy of extended venom immunotherapy maintenance intervals in mastocytosis.

The journal of allergy and clinical immunology. In practice
2025

Sex differences in urinary mast cell mediators: Implications for diagnosing atopic and mast cell disorders.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

New treatments for systemic mastocytosis in 2025.

Current opinion in allergy and clinical immunology
2025

Current and future therapeutics targeting mast cells in disease.

Pharmacology &amp; therapeutics
2025

Hereditary alpha-tryptasemia - a potential cause of severe anaphylactic reactions and a modifier of mast cell diseases.

Swiss medical weekly
2025

Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.

JAMA dermatology
2025

Defining "Normal" basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis.

Frontiers in allergy
2025

Cutaneous mastocytosis: diagnostic challenges and dietary influences.

Dermatology reports
2025

Histamine metabolite to basal serum tryptase ratios in systemic mastocytosis and hereditary alpha tryptasemia using a validated LC-MS/MS approach.

Clinical chemistry and laboratory medicine
2025

Continued symptom and quality of life improvement with favorable safety shown with long-term avapritinib in indolent systemic mastocytosis.

The journal of allergy and clinical immunology. In practice
2025

Effectiveness of histamine receptor antagonists in the treatment of histamine-driven clinical symptoms: do we have a histamine or, better, an anti-histamine problem?

Drug discovery today
Ver todos os 3.217 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Mastocitose.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Mastocitose

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
    Frontiers in cell and developmental biology· 2026· PMID 41836292mais citado
  2. Multiphasic anaphylaxis in the emergency and intensive care setting.
    BMJ case reports· 2026· PMID 41748252mais citado
  3. Skeletal Involvement in Systemic Mastocytosis: Pathophysiology, Clinical Management, Standards of Care, and Novel Therapeutic Strategies.
    Cells· 2026· PMID 41677670mais citado
  4. Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.
    Blood advances· 2026· PMID 41604606mais citado
  5. Investigating instruments for evaluation of gastrointestinal burdens in patients with systemic mastocytosis: an exploratory multimethod study.
    Scandinavian journal of gastroenterology· 2026· PMID 41424055mais citado
  6. A rare chain of events: Post-follicular therapy-related t(8;21) acute myeloid leukaemia with KIT D816Y mutation revealing systemic mastocytosis.
    Br J Haematol· 2026· PMID 41992504recente
  7. Avapritinib achieves long-term disease control with favorable safety in patients with indolent systemic mastocytosis over 3 years.
    J Allergy Clin Immunol· 2026· PMID 41985569recente
  8. Mast Cell Activation Syndrome: Quantification of Mast Cells Across Conditions Reveals Limited Diagnostic Utility of Mast Cell Counts and Tryptase Depletion Index.
    Arch Pathol Lab Med· 2026· PMID 41980719recente
  9. A successful treatment of urticaria pigmentosa with omalizumab in a pediatric patient: a case report.
    AME Case Rep· 2026· PMID 41971936recente
  10. Eosinophilic and mastocytic gastrointestinal diseases: current knowledge and controversy in histopathologic diagnosis.
    Transl Gastroenterol Hepatol· 2026· PMID 41969550recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98292(Orphanet)
  2. MONDO:0007950(MONDO)
  3. GARD:6987(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q112670(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Mastocitose
Compêndio · Raras BR

Mastocitose

ORPHA:98292 · MONDO:0007950
Prevalência
1-5 / 10 000
CID-10
Q82.2 · Mastocitose
CID-11
Ensaios
19 ativos
Início
All ages
Prevalência
3.0 (Europe)
MedGen
UMLS
C0024899
Repurposing
2 candidatos
cimetidinehistamine receptor antagonist
imatinibBcr-Abl kinase inhibitor|KIT inhibitor|PDGFR tyrosine kinase receptor inhibitor
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades