Mastocitose Sistêmica Agressiva (MSA) é uma forma grave e rara de mastocitose sistêmica (MS), caracterizada pelo grande acúmulo de mastócitos (um tipo de célula de defesa) em diferentes partes do corpo.
Introdução
O que você precisa saber de cara
Mastocitose Sistêmica Agressiva (MSA) é uma forma grave e rara de mastocitose sistêmica (MS), caracterizada pelo grande acúmulo de mastócitos (um tipo de célula de defesa) em diferentes partes do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 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
5 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
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
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.
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
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.
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
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
781 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
51 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 agressiva
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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
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
18 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.
Systemic mastocytosis (SM) in adults is, in most cases, caused by a somatic mutation leading to p.D816V in KIT. We report the first proof of this variant as a heterozygous de novo germline mutation in a female infant with severe neonatal SM. The girl presented prenatally with hepatosplenomegaly and postnatally with diffuse cutaneous lesions and organ dysfunction. Histopathologic specimens displayed infiltration with atypical mastocytes. Molecular analyses confirmed the KIT mutation in multiple non-infiltrated tissues, demonstrating the germline nature of the mutation. Despite targeted treatment with pharmacokinetically monitored midostaurin and adjunct therapies, the disease progressed rapidly, resulting in fatal multiorgan failure.
Aggressive Systemic Mastocytosis Presenting as Diffuse Osteoblastic Bone Disease: A Diagnostic Pitfall Mimicking Metastatic Cancer.
Systemic mastocytosis is a rare clonal disorder characterised by the proliferation and accumulation of mast cells in one or more extracutaneous organs. Its clinical presentation is highly heterogeneous and aggressive variants may mimic metastatic malignancy, leading to significant diagnostic delay. We report the case of an 83-year-old woman presenting with fatigue, weight loss, low-grade evening fever and night sweats over two months. Laboratory evaluation showed pancytopenia, mild inflammatory response, and normal hepatic and renal function. Imaging studies revealed diffuse osteoblastic lesions throughout the axial skeleton, initially interpreted as bone metastases from an unknown primary tumour. Further imaging demonstrated hepatosplenomegaly and prominent periportal lymph nodes. Bone biopsy of an iliac lesion revealed replacement of marrow by sheets of epithelioid mast cells (CD117+, tryptase, CD68+). Serum tryptase was elevated (56.3 ng/ml), fulfilling World Health Organization (WHO) diagnostic criteria for systemic mastocytosis. The patient was diagnosed with aggressive systemic mastocytosis and started cladribine therapy with antimicrobial prophylaxis, with progressive improvement of constitutional symptoms and she remains under follow-up in the haematology department. Aggressive systemic mastocytosis presenting with diffuse osteoblastic bone lesions is extremely uncommon and may closely mimic metastatic carcinoma, particularly of breast or prostate origin. Diagnosis requires a high index of suspicion and confirmation through histopathology, immunophenotyping and serum tryptase measurement. KIT mutations, especially D816V, are frequent but were absent in this case. This case highlights the importance of considering systemic mastocytosis in the differential diagnosis of osteoblastic bone disease, particularly in elderly patients with constitutional symptoms and unexplained cytopenias. Early recognition allows timely initiation of appropriate therapy and avoids unnecessary oncology investigations. Aggressive mastocytosis can rarely present with diffuse osteoblastic bone lesions mimicking metastatic disease.Elevated serum tryptase and histopathological confirmation are essential for diagnosis, even when KIT mutations are absent.Early recognition prevents unnecessary oncologic investigations and allows timely initiation of cytoreductive therapy.
Neonatal Aggressive Systemic Mastocytosis Treated With Midostaurin and Systematic Review of the Literature.
We describe a rare case of aggressive systemic mastocytosis (ASM) in a preterm neonate born at 33 weeks' gestation, with prenatal findings of polyhydramnios and hepatosplenomegaly. Postnatal evaluation revealed extensive cutaneous lesions. Her skin and liver biopsies confirmed mast cell infiltration. Molecular analysis identified a somatic KIT D816V mutation. Treatment with midostaurin, a multikinase inhibitor, led to significant clinical improvement, including resolution of skin lesions and reduction in hepatosplenomegaly. This case highlights the importance of early recognition of cutaneous signs in neonatal ASM and supports the potential role of targeted therapy with midostaurin.
[Aggressive systemic mastocytosis complicated with acute myeloid leukemia harboring the RUNX1::RUNX1T1 fusion gene: a case report].
Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.
Diffuse cutaneous mastocytosis (DCM) is a rare and severe subtype of pediatric mastocytosis, characterized by extensive skin involvement. Comprehensive studies on the clinical and molecular features of DCM remain limited. To describe the clinical, molecular, and treatment-related characteristics and outcomes of a cohort of pediatric patients with a clinical presentation of DCM. This retrospective study analyzed pediatric patients with a clinical presentation of DCM from January 1996 to October 2023 at Necker Children's Hospital in Paris, France. Data on clinical presentation, laboratory results, and KIT sequencing from skin biopsies and bone marrow, if available, were collected and analyzed. These data were compared with previously published findings from a pediatric cohort with maculopapular cutaneous mastocytosis (MPCM). The study included 33 pediatric patients, 18 (54.5%) of whom were male, with a clinical presentation of DCM, including 4 with aggressive systemic mastocytosis (ASM) and 29 with DCM. The mean (SD) age at the onset of the first clinically significant signs was 2.2 (2.2) months. A disease-revealing massive bullous eruption was noted in 9 patients (27.2%). Compared to MPCM, patients with a clinical presentation of DCM had a higher mean baseline serum tryptase level (47.5 μg/L [SD, 38.7; range, 5.0-178.0 μg/L] vs 7.4 μg/L [SD, 6.4; range, 1-45.2]; P < .001), a higher prevalence of anaphylaxis (4 [12.1%] vs 5 [2.4%]; P = .02), and a more frequent association with ASM (4 [12.1%] vs 2 [0.9%]; P = .004). KIT codon 816 variants were identified in 4 patients (19.0%), other KIT variants in 14 patients (66.7%), and wild-type KIT in 3 patients (14.3%). All 4 patients with KIT codon 816 variants had ASM. Seven patients (21.2%) received early systemic treatment (imatinib, midostaurin, or sirolimus depending on the type of KIT variants), starting at a mean (SD) age of 80.8 (135.6) months and continuing for a mean (SD) of 4.0 (2.6) years, with generally good tolerance and efficacy. Of the 15 patients without systemic treatment for more than 6 years, 13 (86.6%) exhibited spontaneous regression. In this cohort study, DCM presentation differs significantly from MPCM, with a higher risk of anaphylaxis and aggressive systemic forms, the latter being consistently associated with the KIT D816V variant. Tyrosine kinase inhibitors and sirolimus were generally effective and well tolerated in this pediatric population, with the choice of treatment depending on the type of KIT variants.
Publicações recentes
Midostaurin-Cladribine Therapy for Neonatal Aggressive Systemic Mastocytosis.
Aggressive Systemic Mastocytosis Presenting as Diffuse Osteoblastic Bone Disease: A Diagnostic Pitfall Mimicking Metastatic Cancer.
[Aggressive systemic mastocytosis complicated with acute myeloid leukemia harboring the RUNX1::RUNX1T1 fusion gene: a case report].
Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.
Aggressive Systemic Mastocytosis Presenting as Pyrexia of Unknown Origin and Sclerotic Bone Lesions: An Uncommon Presentation of a Rare Haematological Disorder.
📚 EuropePMC70 artigos no totalmostrando 80
Aggressive Systemic Mastocytosis Presenting as Diffuse Osteoblastic Bone Disease: A Diagnostic Pitfall Mimicking Metastatic Cancer.
European journal of case reports in internal medicine[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 zazhiAggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.
Pediatric blood & cancerAggressive Systemic Mastocytosis Presenting as Pyrexia of Unknown Origin and Sclerotic Bone Lesions: An Uncommon Presentation of a Rare Haematological Disorder.
CureusReal-world characteristics of systemic mastocytosis in Romania: insights from a reference-center-based descriptive study.
Journal of medicine and lifeGallbladder Involvement in Aggressive Systemic Mastocytosis.
Turkish journal of haematology : official journal of Turkish Society of HaematologyNeonatal Aggressive Systemic Mastocytosis Treated With Midostaurin and Systematic Review of the Literature.
Pediatric dermatologyClinical and Biological Characteristics of Four Patients with Aggressive Systemic Mastocytosis Treated with Midostaurin.
BiomedicinesNew treatments for systemic mastocytosis in 2025.
Current opinion in allergy and clinical immunologyCharacteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.
JAMA dermatologyAggressive systemic mastocytosis: unraveling the mystery behind chronic diarrhea.
Clinical endoscopyInguinal intertrigo in a patient with aggressive systemic mastocytosis.
European journal of dermatology : EJDEnasidenib in relapsed aggressive systemic mastocytosis with IDH2 mutation.
Leukemia & lymphomaClonal dynamics of aggressive systemic mastocytosis on avapritinib therapy.
Blood cancer journalCT and Fluorine-18-Fluorodeoxyglucose (18F-FDG) PET/CT Imaging Findings of Aggressive Systemic Mastocytosis: A Case Report.
CureusAggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation.
Cancer geneticsAvapritinib treatment of aggressive systemic mastocytosis with a novel KIT exon 17 mutation.
Leukemia research reportsReview and Updates on Systemic Mastocytosis and Related Entities.
CancersAggressive systemic mastocytosis with multiple organ involvement: a case report.
Oxford medical case reportsEosinophilia in a patient with aggressive systemic mastocytosis harboring a KIT D816V mutation: A case report.
SAGE open medical case reportsCo-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia.
Leukemia researchAggressive systemic mastocytosis of colon and lymph node: A case report.
MedicineIntense Fluorodeoxyglucose Uptake in Aggressive Systemic Mastocytosis without Associated Hematological Neoplasm: Unusual Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Presentation.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaEfficacy of avapritinib in refractory aggressive systemic mastocytosis: a single-patient case.
Polish archives of internal medicineBrain Nocardiosis Defined by 18 F-Fluorocholine PET/CT.
Clinical nuclear medicineA Rare Case of Aggressive Systemic Mastocytosis With Skeletal Osteosclerotic Lesions on Presentation: A Diagnostic Conundrum.
CureusHematopoietic KIT D816Y mutation presenting as in utero aggressive systemic mastocytosis with response to midostaurin.
The journal of allergy and clinical immunology. In practiceMastocytosis and related entities: a practical roadmap.
Acta clinica BelgicaThe international consensus classification of mastocytosis and related entities.
Virchows Archiv : an international journal of pathologyTherapeutic management and outcome of patients with advanced systemic mastocytosis treated with midostaurin: A comprehensive real-life study in the French national healthcare database.
Hematological oncology[Aggressive systemic mastocytosis involving gastric and retroperitoneal lymph nodes: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyThe Role of Avapritinib for the Treatment of Systemic Mastocytosis.
Cureus[Influenza A: H1N1 post-viral membranoproliferative glomerulonephritis occurring in aggressive systemic mastocytosis: Case report and literature review].
Nephrologie & therapeutiqueAggressive systemic mastocytosis with diffuse bone marrow 18F-FDG uptake.
Nuklearmedizin. Nuclear medicineMastocytosis and Mast Cell Activation Disorders: Clearing the Air.
International journal of molecular sciencesThe association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis.
BloodTargeting KIT by frameshifting mRNA transcripts as a therapeutic strategy for aggressive mast cell neoplasms.
Molecular therapy : the journal of the American Society of Gene TherapyReal-World Efficacy of Midostaurin in Aggressive Systemic Mastocytosis.
Journal of clinical medicineMastocytosis in the skin accompanied by pseudo-Kaposi's sarcoma.
The Journal of dermatologyA case of aggressive systemic mastocytosis with bulky lymphadenopathy showing response to midostaurin.
Clinical case reportsAggressive systemic mastocytosis presenting as rapidly progressive ascites, generalised lymphadenopathy and osteosclerosis.
BMJ case reportsCriteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up.
The journal of allergy and clinical immunology. In practiceAn aggressive systemic mastocytosis preceded by ovarian dysgerminoma.
BMC cancerThe Efficacy of Cladribine (2-CdA) in Advanced Systemic Mastocytosis.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA rare case of aggressive systemic mastocytosis manifesting with bullous lesions in a neonate.
Indian journal of dermatology, venereology and leprologyEuropean Medicines Agency review of midostaurin (Rydapt) for the treatment of adult patients with acute myeloid leukaemia and systemic mastocytosis.
ESMO openPresumed mast cell choroidal infiltrate in aggressive systemic mastocytosis.
American journal of ophthalmology case reportsAggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report.
Annals of hematologyNovel approaches to treating advanced systemic mastocytosis.
Clinical pharmacology : advances and applicationsMyelomastocytic Blast Cell Crisis in Resistant Tyrosine Kinase Inhibitor Chronic Myelogenous Leukemia: Case Report and Review of Literature.
CureusAggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant.
British journal of haematologyTelangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series.
European journal of dermatology : EJDMidostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis.
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsFDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis.
The oncologistMidostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerAggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia.
Case reports in hematologyBLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor.
Annals of translational medicinePrevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study.
MedicineNeonatal aggressive systemic mastocytosis.
The British journal of dermatologyA precision therapy against cancers driven by KIT/PDGFRA mutations.
Science translational medicineMidostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis.
Expert review of clinical pharmacologyCase Report: Unusual Manifestation of KIT Negative Systemic Mastocytosis.
American journal of hematology/oncologyMidostaurin: First Global Approval.
DrugsPharmacotherapy of mast cell disorders.
Current opinion in allergy and clinical immunologyClinical potential of midostaurin in advanced systemic mastocytosis.
Blood and lymphatic cancer : targets and therapyIn utero presentation of aggressive systemic mastocytosis in a neonate.
The British journal of dermatologyAdvances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future.
Cancer researchProgressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine.
Journal of clinical virology : the official publication of the Pan American Society for Clinical VirologyA new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase.
OncotargetA unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: a case report.
Journal of medical case reportsAdvanced systemic mastocytosis: from molecular and genetic progress to clinical practice.
HaematologicaSystemic mastocytosis: A rare cause of non-cirrhotic portal hypertension.
World journal of gastroenterologySystemic Mastocytosis with Associated Clonal Hematological Non-Mast Cell Lineage Disorder (MDS-RCMD): A Difficult Disease to Diagnose and Treat.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionEfficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis.
The New England journal of medicineSystemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case.
Case reports in oncological medicineTreatment of CD30-positive systemic mastocytosis with brentuximab vedotin.
Leukemia researchTelangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement.
Journal of the American Academy of DermatologyRuxolitinib improves symptoms and quality of life in a patient with systemic mastocytosis.
Biomarker researchAggressive systemic mastocytosis of the liver with cholangitis.
Hepatic oncologyNilotinib in patients with systemic mastocytosis: analysis of the phase 2, open-label, single-arm nilotinib registration study.
Journal of cancer research and clinical oncologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Mastocitose sistêmica agressiva
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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.
- Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.
- Aggressive Systemic Mastocytosis Presenting as Diffuse Osteoblastic Bone Disease: A Diagnostic Pitfall Mimicking Metastatic Cancer.
- Neonatal Aggressive Systemic Mastocytosis Treated With Midostaurin and Systematic Review of the Literature.
- [Aggressive systemic mastocytosis complicated with acute myeloid leukemia harboring the RUNX1::RUNX1T1 fusion gene: a case report].
- Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.
- Midostaurin-Cladribine Therapy for Neonatal Aggressive Systemic Mastocytosis.
- Aggressive Systemic Mastocytosis Presenting as Pyrexia of Unknown Origin and Sclerotic Bone Lesions: An Uncommon Presentation of a Rare Haematological Disorder.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98850(Orphanet)
- MONDO:0020333(MONDO)
- GARD:19597(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q19000398(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
