A Mastocitose Sistêmica (MS) é um grupo diverso de cânceres do sangue raros e crônicos, que são adquiridos (não se nasce com eles). Essa condição está relacionada ao crescimento anormal de mastócitos em diversos tecidos do corpo, como a medula óssea, e pode ou não afetar a pele.
Introdução
O que você precisa saber de cara
A Mastocitose Sistêmica (MS) é um grupo diverso de cânceres do sangue raros e crônicos, que são adquiridos (não se nasce com eles). Essa condição está relacionada ao crescimento anormal de mastócitos em diversos tecidos do corpo, como a medula óssea, e pode ou não afetar a pele.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 73 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
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
Nucleus
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
NucleusNucleus, nucleoplasmNucleus speckle
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
Cell membraneCytoplasm
Piebald trait
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
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
NucleusChromosome
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
CytoplasmCell membraneCell projection, ciliumGolgi apparatus
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.
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
Nucleus
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.
Medicamentos e terapias
Mecanismo: Platelet-derived growth factor receptor inhibitor
Variantes genéticas (ClinVar)
841 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
72 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Mastocitose sistêmica
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
Ensaios em destaque
🟢 Recrutando agora
8 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
99 ensaios clínicos encontrados, 12 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.154
Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
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.
Multiphasic anaphylaxis in the emergency and intensive care setting.
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.
Skeletal Involvement in Systemic Mastocytosis: Pathophysiology, Clinical Management, Standards of Care, and Novel Therapeutic Strategies.
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.
Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.
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.
Investigating instruments for evaluation of gastrointestinal burdens in patients with systemic mastocytosis: an exploratory multimethod study.
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
A rare chain of events: Post-follicular therapy-related t(8;21) acute myeloid leukaemia with KIT D816Y mutation revealing systemic mastocytosis.
Avapritinib achieves long-term disease control with favorable safety in patients with indolent systemic mastocytosis over 3 years.
Mast Cell Activation Syndrome: Quantification of Mast Cells Across Conditions Reveals Limited Diagnostic Utility of Mast Cell Counts and Tryptase Depletion Index.
Reconsidering cytoreductive therapy in high-risk pediatric mastocytosis: From diffuse cutaneous to smoldering systemic disease.
Treatment of systemic mastocytosis with associated hematologic neoplasm: midostaurin and beyond.
📚 EuropePMC1.491 artigos no totalmostrando 198
Anaphylaxis events in the PIONEER study of avapritinib in indolent systemic mastocytosis.
The World Allergy Organization journalCharacterization of CD123 expression by mast cells in systemic mastocytosis with multicolor flow cytometry.
Cytometry. Part B, Clinical cytometryMolecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
Frontiers in cell and developmental biologyPresumed 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 pathologyAggressive Systemic Mastocytosis Presenting as Diffuse Osteoblastic Bone Disease: A Diagnostic Pitfall Mimicking Metastatic Cancer.
European journal of case reports in internal medicineUnexplained Syncope in Mastocytosis: The Role of Early Dermatological Recognition.
Acta dermatovenerologica Croatica : ADCHereditary Alpha-Tryptasemia and Mastocytosis: What We Know and What We Need To Learn.
Current allergy and asthma reportsMultiphasic anaphylaxis in the emergency and intensive care setting.
BMJ case reportsCD25+ mast cell hyperplasia in myeloid/lymphoid neoplasm with PDGFRA rearrangement mimicking systemic mastocytosis.
BloodSoluble FcεRI is increased in advanced mastocytosis and acts as a negative regulator of mast cell expansion and activation.
The Journal of allergy and clinical immunologyCytoreduction is a Valid Option for Treatment and Prevention of Anaphylaxis in Systemic Mastocytosis: Case Report and Literature Review.
Clinical reviews in allergy & immunologyPrognostic 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 ImmunologySystemic Mastocytosis, KIT and the Effects of KIT Tyrosine Kinase Inhibitors on Mast Cell and Basophil Activation.
Current allergy and asthma reportsAvapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study.
Journal of the American Academy of DermatologySkeletal Involvement in Systemic Mastocytosis: Pathophysiology, Clinical Management, Standards of Care, and Novel Therapeutic Strategies.
CellsCase report: A case of mast cell leukemia treated with avapritinib: from diagnostic challenge to transplantation.
Frontiers in oncology[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 zazhiNemolizumab as an Alternative Therapeutic Option for Indolent Systemic Mastocytosis.
CureusRelapse of Acute Myeloid Leukemia With Concomitant Systemic Mastocytosis Five Years Post Allogenic Hematopoietic Stem Cell Transplantation.
Case reports in hematologyJournal Club: Mastocytosis: across the spectrum: pathobiology, clinical evaluation, and evolving therapies.
European journal of dermatology : EJDEfficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.
Blood advancesComparative Analysis of Pediatric and Adult Mastocytosis: Clinical Presentation, Triggers, and Treatment Patterns from a Tertiary Care Registry.
Children (Basel, Switzerland)Evidence for dysbiosis in the gut microbiome of patients with systemic mastocytosis.
The journal of allergy and clinical immunology. GlobalCase Report: A rare case of synchronous ovarian mixed germ cell tumor and mast cell leukemia in a pediatric patient.
Frontiers in oncologyKIT Mutant/Core binding factor-negative acute myeloid leukemia might be a complex subgroup with dismal prognosis: a single-center retrospective analysis.
Annals of hematologyRefractory cutaneous symptoms in systemic mastocytosis.
JAAD case reportsSystemic mastocytosis for the practicing clinician: overview, diagnostic features, prognostication and antiproliferative treatment in the era of targeted therapy.
Leukemia & lymphomaOff-label applications of omalizumab: Current insights and perspectives.
The World Allergy Organization journalEvaluation and differential diagnosis of eosinophilia: A tertiary allergy center experience.
Tuberkuloz ve toraksEvaluating the Clinical Relevance of Elevated Mucosal Mast Cells in the Gastrointestinal Tract.
Journal of clinical gastroenterologyAvapritinib 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 oncologyAvapritinib and corticosteroids in advanced systemic mastocytosis with tumoral CMML and associated thrombocytopenia.
Oxford medical case reportsMastocytosis: Imaging Spectrum and Diagnostic Insights.
Radiographics : a review publication of the Radiological Society of North America, IncCorrelates of organ damage in patients with advanced systemic mastocytosis enrolled in clinical trials of avapritinib.
Blood neoplasiaInvestigating instruments for evaluation of gastrointestinal burdens in patients with systemic mastocytosis: an exploratory multimethod study.
Scandinavian journal of gastroenterologyNew insight into role of mast cells in erythrocyte homeostasis and clearance under oxidative stress conditions in vivo.
Biochemistry and biophysics reportsPrevalence of KIT D816V in anaphylaxis or systemic mast cell activation.
The Journal of allergy and clinical immunologyNear-Fatal Mastocytosis Mimicking as Malignant Vasovagal Syncope.
JACC. Case reportsIs 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.
HaematologicaBiconcave 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 USADenosumab as a Potential Disease-Modifying Treatment in Indolent Systemic Mastocytosis-Related Osteoporosis.
JCEM case reportsDistinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract.
American journal of clinical pathologyCardiovascular manifestations in mast cell activation disease: key insights for cardiologists and angiologists.
Frontiers in cardiovascular medicineManagement of Mastocytosis and Mast Cell Activation in Children.
The journal of allergy and clinical immunology. In practiceDiagnosis and Management of Patients With Mast Cell Activation Syndromes: Status 2026.
The journal of allergy and clinical immunology. In practiceAutonomic function testing and symptom severity in patients with suspected mast cell activation disorders.
Autonomic neuroscience : basic & clinicalManagement 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 USAChronic Anaphylaxis With Indolent Systemic Mastocytosis: A Case Report.
Case reports in hematologyUsing natural language processing to identify symptoms in systemic mastocytosis.
JAMIA openLampson 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.
BloodKIT-Targeting Drugs in the Management of Nonadvanced and Advanced Systemic Mastocytosis.
The journal of allergy and clinical immunology. In practiceUnmasking mast cell infiltrates: augmented reality and AI in GI endoscopy for systemic mastocytosis.
Annals of medicine and surgery (2012)Pre-diagnostic and non-advanced systemic mastocytosis without cutaneous involvement have an increased risk of anaphylaxis.
Frontiers in allergyCase Report: Refractory systemic nmastocytosis with AML1::ETO+ acute myeloid leukemia driven by rare KIT mutation: remarkable therapeutic efficacy of avapritinib.
Frontiers in pediatricsPSMA-positive bone lesions unmasked: systemic mastocytosis mimicking metastatic prostate cancer.
European journal of nuclear medicine and molecular imagingAnesthetic Considerations for Cesarean Section in a Woman With Systemic Mastocytosis.
CureusAggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.
Pediatric blood & cancerPractical diagnostic approach to assess myeloid and precursor cell neoplasms on trephine bone marrow biopsies: reflection of middle European reality.
Journal of hematopathologyMyeloid 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 biologyDiagnosing Systemic Mastocytosis: State of the Art.
International journal of laboratory hematologyFrench guidelines for the management of nonadvanced mastocytosis in adults.
Orphanet journal of rare diseasesLeukocytosis, 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 practiceIncidental detection of systemic mastocytosis in appendectomy.
Medicina clinicaAllogeneic haematopoietic cell transplantation in advanced systemic mastocytosis in the new era: A CIBMTR study.
British journal of haematologyAvapritinib reduces symptoms and mast cell burden in systemic mastocytosis.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyUnderstanding Cutaneous Mastocytosis: A Case Report on the Symptoms and Diagnosis of a Rare Disease.
CureusKIT-Negative Systemic Mastocytosis Associated With Acute Myeloid Leukemia.
Case reports in oncological medicineAggressive Systemic Mastocytosis Presenting as Pyrexia of Unknown Origin and Sclerotic Bone Lesions: An Uncommon Presentation of a Rare Haematological Disorder.
CureusCrystal-Storing Histiocytosis of Gastrointestinal Tract: Report of 2 Patients and Literature Review.
International journal of surgical pathologyDiffuse Gastric Uptake on 18 F-FDG PET/CT Caused by Involvement of Mastocytosis in a Patient With Systemic Mastocytosis.
Clinical nuclear medicineDiagnosis, management and the burden of symptoms of mastocytosis from the physician's perspective: A nationwide study.
British journal of haematologyAssessment 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 applicationsBone marrow mastocytosis associated with primary cutaneous follicle center lymphoma: an unusual case report.
Annals of hematologyPreclinical Antitumor Efficacy of a Novel Anti-c-Kit Antibody-Drug Conjugate, NN3201, in c-Kit-Positive Tumors.
Molecular cancer therapeuticsMast Cell Leukemia: Comprehensive Review of Literature With Current Insights and Updates on Management.
Journal of hematologyGastric biopsies with prominent eosinophils: Clinicopathologic features and response to therapy.
HistopathologySuccessful venom immunotherapy with avapritinib in a patient with systemic mastocytosis.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyReal-world characteristics of systemic mastocytosis in Romania: insights from a reference-center-based descriptive study.
Journal of medicine and lifeNovel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.
Virchows Archiv : an international journal of pathologyGallbladder Involvement in Aggressive Systemic Mastocytosis.
Turkish journal of haematology : official journal of Turkish Society of HaematologyInnovative Therapeutic Approaches in Systemic Mastocytosis: an Updated Review.
MaedicaSystemic mastocytosis in paediatric acute myeloid leukaemia with RUNX1::RUNX1T1 fusion.
PathologyImpact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.
The journal of allergy and clinical immunology. In practiceMastocytic enterocolitis in a patient with chronic diarrhoea.
BMJ case reportsNeonatal Aggressive Systemic Mastocytosis Treated With Midostaurin and Systematic Review of the Literature.
Pediatric dermatologyUnmasking systemic mastocytosis: a case of gastrointestinal involvement misdiagnosed as achalasia.
Journal of surgical case reportsSystemic mastocytosis with an associated myeloid neoplasm: Report from the XVI European Bone Marrow Working Group Course and Workshop, Barcelona 2023.
American journal of clinical pathologyWell-differentiated systemic mastocytosis: Genetics, mast cell immunophenotypes, and KIT autophosphorylation.
The Journal of allergy and clinical immunologyMast cell conditions and drug allergy.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyMidostaurin in daily clinical practice of patients with advanced systemic mastocytosis.
British journal of haematologyWhen relief is out of reach: living with chronic itch.
Skin health and diseaseThe evaluation, management, and future of indolent systemic mastocytosis.
Annals of hematologyDigital polymerase chain reaction enhances analysis of the cKIT D816V mutation in systemic mastocytosis patients: Clinical insights.
Hematology, transfusion and cell therapyTyrosine Kinase Inhibitors for the Treatment of Mast Cell Diseases: Review and Update.
Journal of investigational allergology & clinical immunologyClinical and Biological Characteristics of Four Patients with Aggressive Systemic Mastocytosis Treated with Midostaurin.
BiomedicinesAvapritinib versus midostaurin or cladribine in advanced systemic mastocytosis: A retrospective real-world external control study.
Leukemia researchCase report: Experience of a rare case of primary acute mast cell leukemia.
Leukemia research reportsHereditary α-Tryptasemia and Peripheral Blood KIT D816V Mutation in Patients with Pediatric Mastocytosis.
International journal of molecular sciencesHymenoptera anaphylaxis and mast cell activation disorders.
Current opinion in allergy and clinical immunologyCritical 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 CytologyThe number of vertebral fractures in indolent systemic mastocytosis is influenced by presence of the KIT-mutation.
BoneThe Use of Biologic Therapeutic Regimens in Cutaneous and Systemic Mastocytosis: A Scoping Review.
Journal of drugs in dermatology : JDD[Avapritinib for systemic mastocytosis with an associated myelodysplastic/myeloproliferative neoplasm: a case report and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiHereditary alpha-tryptasemia and monoclonal mast cell disorders.
Frontiers in allergySystemic Mastocytosis in 910 Patients: Prognostic Contribution of the International Consensus Classification in the Context of the Mayo Alliance Prognostic System.
American journal of hematologyPatient and Advanced Practitioner Perspectives on Symptom Burden and Symptom Management in Indolent Systemic Mastocytosis.
Journal of the advanced practitioner in oncologyIntegrating a Rare Disease into Practice: Development of a Toolkit for Systemic Mastocytosis.
Journal of the advanced practitioner in oncologyManagement of indolent mastocytosis and mast cell activation syndrome: A clinical yardstick.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyPathogenic Mechanisms of Systemic Mastocytosis: Unraveling the Genetic Complexity, Bone Marrow Microenvironment, and Clinical Challenges.
European journal of haematologyPatient-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 ImmunologyAvapritinib 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 hematologyIndolent Mastocytosis and Bone Health: Molecular Mechanisms and Emerging Treatment Options.
International journal of molecular sciencesSevere Anemia With Intraosseous-Intramuscular Hemorrhage in a Patient With Kit-C-Negative Systemic Mastocytosis.
CureusMastocytosis: Part II: Diagnosis and Management of Mastocytosis through a Multidisciplinary Lens.
Journal of the American Academy of DermatologyMastocytosis: Part I: Pathogenesis, Clinical Presentation and Classification.
Journal of the American Academy of DermatologyPrevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.
British journal of haematologyTreatment of indolent systemic mastocytosis with sarilumab is not supported in a randomized trial.
The journal of allergy and clinical immunology. GlobalDifferent clearance of KITD816V mutation and tryptase levels after haematopoietic cell transplantation in patients with systemic mastocytosis with associated haematological neoplasm.
British journal of haematologyAtypical presentation of Olmesartan-induced gastritis and enteropathy.
Acta gastro-enterologica BelgicaUtility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.
Frontiers in allergyNew treatments for systemic mastocytosis in 2025.
Current opinion in allergy and clinical immunologyHereditary alpha-tryptasemia - a potential cause of severe anaphylactic reactions and a modifier of mast cell diseases.
Swiss medical weeklyCharacteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.
JAMA dermatologyDefining "Normal" basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis.
Frontiers in allergyHistamine metabolite to basal serum tryptase ratios in systemic mastocytosis and hereditary alpha tryptasemia using a validated LC-MS/MS approach.
Clinical chemistry and laboratory medicineContinued 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 practiceEffectiveness 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 todayMastocytosis in the Skin: Approach to Diagnosis, Evaluation, and Management in Adult and Pediatric Patients.
American journal of clinical dermatologyAggressive systemic mastocytosis: unraveling the mystery behind chronic diarrhea.
Clinical endoscopySelecting optimal therapy in systemic mastocytosis: current state and future directions.
Expert opinion on pharmacotherapyCOVID-19 mRNA-1273 vaccination induced mast cell activation with strongly elevated Th2 cytokines in a systemic mastocytosis patient.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Patient-Reported Burden of Indolent Systemic Mastocytosis in a Managed Care Organization-Correspondence.
International journal of rheumatic diseasesSETD2 loss of function is a recurrent event in advanced-phase chronic myeloid leukemia and contributes to genomic instability: SETD2 loss in Chronic Myeloid Leukemia.
Clinical and translational medicineSystemic mastocytosis: Not the average case of back pain.
JAAPA : official journal of the American Academy of Physician AssistantsCase Report: Rapid response to gemtuzumab-ozogamicin in a pediatric patient with refractory systemic mastocytosis with AML1::ETO+ acute myeloid leukemia.
Frontiers in immunologyFlow Cytometric Bone Marrow Evaluation in Suspected Myelodysplastic Neoplasms.
Current protocolsFire ant-venom anaphylaxis prevalence in the general population and patients with systemic mastocytosis.
Frontiers in allergyKIT Inhibitor Therapy in a Pediatric Patient With Systemic Mastocytosis and a Germ Cell Tumor of Shared Clonal Origin.
Pediatric blood & cancer[Indolent systemic mastocytosis : an overview in 2025].
Revue medicale suisseFatal anaphylactic shock due to hymenoptera venom in a farmer suffering from indolent systemic mastocytosis. The comparative diagnostic relevance of perimortem serum tryptase levels.
International journal of legal medicineAn Approach to the Bone Marrow Workup and Diagnosis of Eosinophilia and Mast Cell Disorders.
Advances in anatomic pathologyAnaphylaxis to a blood feeding leech.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyUnveiling Esophageal Candidiasis.
CureusMast cell leukemia: a rare case report and literature review.
Frontiers in oncologyBone Marrow Mast Cells in Systemic Mastocytosis Exhibit Aberrations in Histamine, Size and Granularity.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyHigh-sensitivity KIT D816V variation analysis by droplet digital polymerase chain reaction: The reference laboratory perspective.
American journal of clinical pathologyD816V KIT mutation induces mitochondrial morphologic and functional changes through BNIP3 downregulation in human myeloid cell lines ROSA and TF-1.
Experimental hematologyHereditary Alpha Tryptasemia: Survey of Concomitant Genetic Testing.
International archives of allergy and immunologyFedratinib and gandotinib induce apoptosis and enhance the efficacy of tyrosine kinase inhibitors in human mast cells.
American journal of cancer researchManagement of Bone Health in Adult Mastocytosis.
Current osteoporosis reportsUncovering two neutrophil-committed progenitors that immediately precede promyelocytes during human neutropoiesis.
Cellular & molecular immunologyA Rare Case of Acute Aleukemic Mast Cell Leukemia With Osteoblastic Lesions in the Appendicular Skeleton.
Journal of hematologyInguinal intertrigo in a patient with aggressive systemic mastocytosis.
European journal of dermatology : EJDBreaking point: Systemic mastocytosis manifesting as severe osteoporosis.
OncoscienceConfirmed Systemic Mastocytosis in a Pediatric Patient With Widespread Cutaneous Symptoms.
PediatricsCharacterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specified.
EClinicalMedicineEvaluation of Mast Cell Disease in Women: A Case Study of Delayed Diagnosis of Systemic Mastocytosis.
The journal of allergy and clinical immunology. In practiceIL-4, TSLP and IL-31 Cytokine Profiles as Related to Psychometric Measures in Patients with Mastocytosis.
International journal of molecular sciencesSystemic mastocytosis: current status and challenges in 2024.
Blood advancesPrognostic impact of expression of CD2, CD25, and/or CD30 in/on mast cells in systemic mastocytosis: a registry study of the European Competence Network on Mastocytosis.
LeukemiaHow I diagnose and treat systemic mastocytosis with an associated hematologic neoplasm.
BloodLifetime Disability-Adjusted Life-Year Assessment of Indolent Systemic Mastocytosis.
The journal of allergy and clinical immunology. In practice[Endoscopy for the diagnosis of mast cell leukemia with refractory diarrhea: a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyKIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.
Case reports in hematologyMast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis.
Journal of hematopathologyRecurrent prosthetic mitral valve thrombosis: First report of an unusual feature of systemic mastocytosis, a case report and review of the literature.
Caspian journal of internal medicineOcular and palpebral manifestations of mastocytosis: A prospective single-center study.
Annales de dermatologie et de venereologieOsteoporosis in Systemic Mastocytosis: A Scoping Review.
Medicina (Kaunas, Lithuania)Thromboelastography for rapid diagnosis of heparin-like anticoagulant release during anaphylaxis-induced coagulopathy in systemic mastocytosis: a case report.
Clinical medicine (London, England)Sensitive and reliable detection of KIT p.D816V mutation in decalcified archival bone marrow trephines.
Virchows Archiv : an international journal of pathologyDemographics, Types of Patient-Reported Allergic Diseases, and Anaphylaxis in Mastocytosis: A Single-Center US Experience.
The journal of allergy and clinical immunology. In practiceQuantifying Mast Cell and Eosinophil Cellular Density in Skin Biopsy Tissue From Adults With Maculopapular Cutaneous Mastocytosis as Compared With Urticaria and Normal Skin: A Retrospective Histopathologic Study.
The American Journal of dermatopathologyCase Report: Multidisciplinary management of a patient with indolent systemic mastocytosis and refractory symptoms.
Frontiers in allergyPatient-Reported Burden of Indolent Systemic Mastocytosis in a Managed Care Organization.
The journal of allergy and clinical immunology. In practiceDetection of KIT Mutations in Systemic Mastocytosis: How, When, and Why.
International journal of molecular sciencesDiarrhea-predominant irritable bowel syndrome as a masquerade for systemic mastocytosis: review article and illustrating case report.
Archives of medical science : AMSEnasidenib in relapsed aggressive systemic mastocytosis with IDH2 mutation.
Leukemia & lymphomaCan molecular patterns help to classify overlapping entities in myeloid neoplasms?
HistopathologyAltered B-cell, plasma cell, and antibody immune profiles in blood of patients with systemic mastocytosis.
The Journal of allergy and clinical immunologyClonal dynamics of aggressive systemic mastocytosis on avapritinib therapy.
Blood cancer journal[Report of six cases with mast cell leukemia and a literature review].
Zhonghua nei ke za zhiIndolent systemic mastocytosis (ISM) without skin lesions as a recurrent anaphylaxis: a case report study.
Annals of medicine and surgery (2012)Comparison of prognostic scores according to WHO classification in 170 patients with advanced mastocytosis and C-finding treated with midostaurin.
American journal of hematologyManagement of Advanced Systemic Mastocytosis: Clinical Challenges.
Journal of blood medicineThe challenging differential diagnosis of recurrent flushing episodes: systemic mastocytosis mimicking carcinoid syndrome.
Endokrynologia PolskaUnraveling wasp sensitization in a patient with systemic mastocytosis by CAP-inhibition assay.
Allergologia et immunopathologiaMASTering systemic mastocytosis: Lessons learned from a large patient cohort.
The journal of allergy and clinical immunology. GlobalSystemic mastocytosis and its alliance with myelodysplastic syndrome.
Indian journal of pathology & microbiologyCharacteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis.
HaematologicaHarmonization of Diagnostic Criteria in Mastocytosis for Use in Clinical Practice: WHO vs ICC vs AIM/ECNM.
The journal of allergy and clinical immunology. In practiceDiagnostic measures in patients with severe insect sting reactions and elevated baseline serum tryptase levels.
Allergologie selectSystemic Mastocytosis Successfully Managed using Cytosorb ® During Cardiopulmonary Bypass for Aortic Valve Replacement.
Annals of cardiac anaesthesiaSystemic Mastocytosis: State of the Art.
Current hematologic malignancy reportsMast Cell Disorders and Hymenoptera Venom-Triggered Anaphylaxis: Evaluation and Management.
The journal of allergy and clinical immunology. In practiceSOHO State of the Art Update and Next Questions: Current and Emerging Therapies for Systemic Mastocytosis.
Clinical lymphoma, myeloma & leukemiaBeyond the Usual Suspects: Unraveling Spleen Mastocytosis in Hypersplenism Differential Diagnosis.
CureusCT and Fluorine-18-Fluorodeoxyglucose (18F-FDG) PET/CT Imaging Findings of Aggressive Systemic Mastocytosis: A Case Report.
CureusInteractions between eosinophils and IL-5Rα-positive mast cells in nonadvanced systemic mastocytosis.
The Journal of allergy and clinical immunologyAssociações
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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.
- Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
- Multiphasic anaphylaxis in the emergency and intensive care setting.
- Skeletal Involvement in Systemic Mastocytosis: Pathophysiology, Clinical Management, Standards of Care, and Novel Therapeutic Strategies.
- Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.
- Investigating instruments for evaluation of gastrointestinal burdens in patients with systemic mastocytosis: an exploratory multimethod study.
- A rare chain of events: Post-follicular therapy-related t(8;21) acute myeloid leukaemia with KIT D816Y mutation revealing systemic mastocytosis.
- Avapritinib achieves long-term disease control with favorable safety in patients with indolent systemic mastocytosis over 3 years.
- Mast Cell Activation Syndrome: Quantification of Mast Cells Across Conditions Reveals Limited Diagnostic Utility of Mast Cell Counts and Tryptase Depletion Index.
- Reconsidering cytoreductive therapy in high-risk pediatric mastocytosis: From diffuse cutaneous to smoldering systemic disease.
- Treatment of systemic mastocytosis with associated hematologic neoplasm: midostaurin and beyond.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2467(Orphanet)
- MONDO:0016586(MONDO)
- GARD:8616(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3851644(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
