Raras
Buscar doenças, sintomas, genes...
Síndrome mielodisplásica, não classificada
ORPHA:98827CID-10 · D46.7CID-11 · 2A37PCDT · SUSDOENÇA RARA
Sangue / imuneInício todas idadesHerança Unknown
Também conhecida comoSMD-USMD

OBSOLETO. A síndrome mielodisplásica não classificada (SMD-U) é um subtipo de síndrome mielodisplásica (SMD) com características atípicas de significado clínico incerto.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

OBSOLETO. A síndrome mielodisplásica não classificada (SMD-U) é um subtipo de síndrome mielodisplásica (SMD) com características atípicas de significado clínico incerto.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
PCDT disponívelCID-10: D46.7
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

🦴
Ossos e articulações
3 sintomas
🩸
Sangue
2 sintomas
🛡️
Imunológico
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

90%prev.
Mielodisplasia
Muito frequente (99-80%)
55%prev.
Mielodisplasia de linhagem múltipla
Frequente (79-30%)
55%prev.
Atividade anormal da lactato desidrogenase
Frequente (79-30%)
55%prev.
Anormalidade do sangue e tecidos hematopoiéticos
Frequente (79-30%)
55%prev.
Fadiga
Frequente (79-30%)
17%prev.
Leucocitose
Ocasional (29-5%)
10sintomas
Muito frequente (1)
Frequente (4)
Ocasional (4)
Muito raro (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

MielodisplasiaMyelodysplasia
Muito frequente (99-80%)90%
Mielodisplasia de linhagem múltiplaMultiple lineage myelodysplasia
Frequente (79-30%)55%
Atividade anormal da lactato desidrogenaseAbnormal lactate dehydrogenase activity
Frequente (79-30%)55%
Anormalidade do sangue e tecidos hematopoiéticosAbnormality of blood and blood-forming tissues
Frequente (79-30%)55%
FadigaFatigue
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos81publicações
Pico202014 papers
Linha do tempo
20202015Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2020Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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.
2Fase 21
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome mielodisplásica, não classificada

🗺️

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

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

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
0 papers (10 anos)
#1

JAK2V617F reprograms Hypoxia Inducible Factor-1 to induce a non-canonical hypoxia regulon in myeloproliferative neoplasms.

Leukemia2026 Mar

Hypoxia-inducible factors (HIFs) are master transcriptional regulators, central to cellular survival in hypoxia and frequently activated within malignancy. Whilst malignant context directs the role of HIFs within oncogenesis, these mechanisms are not well characterised. Applying the JAK2V617F myeloproliferative neoplasms (MPNs) oncogene-driver model, in which HIF-1α is stabilised in normoxia (20% O2), we sought to determine whether the modality of HIF-1 activation directs its function. Through direct analysis of hypoxia-activated vs. JAK2V617F-activated HIF-1 at the chromatin, we define a JAK2V617F-HIF-1 regulon that diverges from canonical HIF/hypoxia targets. In a cohort of 172 JAK2V617F-MPN patients, we observe significant association of the JAK2V617F-HIF-1 regulon, but not canonical HIF-1 gene signatures, with disease severity, progression, and patient survival. We further define a subset gene signature (HIF1-MPN-BP) significantly associated with spontaneous transformation to blast phase MPNs. Finally, we identify that JAK2V617F-induced HIF-1α stabilisation is mediated via PIM1 kinase. Our findings demonstrate that HIF-1 activation by the JAK2V617F-PIM1 axis significantly alters HIF-1 transcription function, desensitising HIF-1 activity to cellular oxygen levels, and restricting the HIF-1 regulon to a set of disease-associated target genes within JAK2V617F-MPNs. These findings restore the potential for specific therapeutic targeting of HIF-1 by delineating malignant activation from the physiological hypoxic response.

#2

Role of allo-HCT in "nonclassical" MPNs and MDS/MPNs: recommendations from the PH&G Committee and the CMWP of the EBMT.

Blood2025 May 29

"Nonclassical" myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) represent a heterogeneous group of malignancies characterized by a wide range of clinical manifestations. Unlike classical MPNs, there is no standardized management approach for these conditions, particularly concerning the indications for and management of allogeneic hematopoietic cell transplantation. To address this gap, the European Society for Blood and Marrow Transplantation (EBMT) Practice Harmonization and Guidelines (PH&G) Committee and the Chronic Malignancies Working Party (CMWP) have collaborated to develop shared guidelines aimed at optimizing the selection and management of patients with these rare forms of neoplasms. A comprehensive review of the literature from the publication of the revised fourth edition of the (2016) World Health Organization classification onward was conducted. A multidisciplinary group of experts in the field convened to produce this document, which was developed through multiple rounds of draft circulation. Key recommendations include the early identification of potential transplant candidates, particularly in cases of chronic neutrophilic leukemia, chronic eosinophilic leukemia (CEL)/CEL, not otherwise specified (CEL-NOS), myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions with FGFR1, JAK2, ABL1, and FLT3 rearrangements, MDS/MPN with neutrophilia/atypical chronic myeloid leukemia, and MDS/MPN, NOS. For patients with MPN, NOS/MPN unclassifiable, standard recommendations for myelofibrosis should be applied. Similarly, in MDS/MPN with thrombocytosis, transplantation is recommended on the basis of established MDS guidelines. Given the current lack of robust evidence, this document will serve as a valuable resource to guide future research activities, providing a framework for addressing critical unanswered questions and advancing the field.

#3

Complex Interplay Between Sweet Syndrome and Therapy-Related Myelodysplastic Syndrome After B-Cell Lymphoma Treatment: A Case Report.

The American journal of case reports2025 Aug 11

BACKGROUND Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is an inflammatory skin condition often associated with hematologic malignancies such as myelodysplastic syndrome (MDS). Therapy-related MDS (tMDS) is a well-recognized subtype of myelodysplastic syndrome that arises due to exposure to chemotherapy or radiation therapy. Reports on SS in the context of tMDS are limited, with unclear clinical features. CASE REPORT An 86-year-old woman with low-grade B-cell lymphoma, unclassifiable, achieved complete remission following bendamustine-rituximab therapy. She later developed cytomegalovirus viremia, persistent fever, and painful erythematous nodules. Histopathological examination of a skin biopsy confirmed SS. Corticosteroids and colchicine were initiated, leading to resolution of cutaneous symptoms. Despite clinical improvement, she developed progressive pancytopenia. Bone marrow evaluation revealed granulocytic dysplasia, including hypogranulation and pseudo-Pelger-Huët anomalies, with 1.5% ring sideroblasts and 3.2% blasts, consistent with MDS. Azacitidine was administered but proved ineffective in restoring hematopoiesis. The patient died due to an invasive Aspergillus brain abscess. Autopsy findings confirmed the absence of lymphoma recurrence. A literature review identified only 4 previously published cases of SS in tMDS, all of which occurred after the diagnosis of tMDS. CONCLUSIONS This case is notable in that SS preceded the diagnosis of MDS, contrasting with previous reports. Although a direct causal relationship cannot be established, this case underscores the diagnostic complexity of cutaneous and hematologic findings following chemotherapy. Furthermore, the absence of consensus on corticosteroid dosing and duration in immunocompromised hosts highlights the need to carefully balance therapeutic benefits against infection risk in SS associated with hematologic malignancies.

#4

Identification and Confirmation of Myeloid/Lymphoid Neoplasms with Fibroblast Growth Factor Receptor 1 Rearrangement and Characterization of Treatment Patterns and Outcomes in a Real-World Setting: A US Retrospective Chart Review.

Acta haematologica2025 Jul 05

Myeloid/lymphoid neoplasms with fibroblast growth factor receptor 1 rearrangement (MLN-FGFR1) are rare, heterogenous, aggressive hematologic malignancies with FGFR1 rearrangements at the 8p11 locus. Pemigatinib, a potent selective inhibitor of FGFR1-3, is approved for relapsed/refractory MLN-FGFR1. This retrospective chart review included US adults with myeloproliferative neoplasm, unclassifiable (MPN-U), myelodysplastic syndrome (MDS)/MPN, post-MPN acute myelogenous leukemia, precursor T- or B-cell acute lymphoblastic leukemia/lymphoma, or mixed-phenotype acute leukemia with bone marrow biopsy and standard cytogenetic and/or molecular results. Probable cases of MLN-FGFR1 were identified and confirmed with cytogenetic or molecular testing results. Patient characteristics, diagnostic testing methods, treatments, and outcomes were abstracted. Of 560 submitted cases, 51 (9.1%) were probable MLN-FGFR1, 33 (5.9%) of which were subsequently confirmed. Among patients with confirmed MLN-FGFR1, 8p11 translocation or FGFR1 rearrangements were detected with standard cytogenetics in 72.7%, break-apart fluorescence in situ hybridization in 66.7%, next-generation sequencing in 21.2%, and real-time polymerase chain reaction in 6.1%. All but 1 patient initiated treatment; 3 patients underwent allogenic stem-cell transplant. This study highlights the importance of cytogenetic and molecular evaluations in patients with chronic/blast phase hematologic malignancies to diagnose MLN-FGFR1. This is particularly important following US approval of pemigatinib for this hematologic malignancy.

#5

Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study.

International journal of molecular sciences2024 Sep 23

The accurate diagnosis and classification of myelodysplastic/myeloproliferative neoplasm (MDS/MPN) are challenging due to the overlapping pathological and molecular features of myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN). We investigated the genomic landscape in different MDS/MPN subtypes, including chronic myelomonocytic leukemia (CMML; n = 97), atypical chronic myeloid leukemia (aCML; n = 8), MDS/MPN-unclassified (MDS/MPN-U; n = 44), and MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T; n = 12). Our study indicated that MDS/MPN is characterized by mutations commonly identified in myeloid neoplasms, with TET2 (52%) being the most frequently mutated gene, followed by ASXL1 (38.7%), SRSF2 (34.7%), and JAK2 (19.7%), among others. However, the distribution of recurrent mutations differs across the MDS/MPN subtypes. We confirmed that specific gene combinations correlate with specific MDS/MPN subtypes (e.g., TET2/SRSF2 in CMML, ASXL1/SETBP1 in aCML, and SF3B1/JAK2 in MDS/MPN-RS-T), with MDS/MPN-U being the most heterogeneous. Furthermore, we found that older age (≥65 years) and mutations in RUNX1 and TP53 were associated with poorer clinical outcomes in CMML (p < 0.05) by multivariate analysis. In MDS/MPN-U, CBL mutations (p < 0.05) were the sole negative prognostic factors identified in our study by multivariate analysis (p < 0.05). Overall, our study provides genetic insights into various MDS/MPN subtypes, which may aid in diagnosis and clinical decision-making for patients with MDS/MPN.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 81

2026

JAK2V617F reprograms Hypoxia Inducible Factor-1 to induce a non-canonical hypoxia regulon in myeloproliferative neoplasms.

Leukemia
2025

Complex Interplay Between Sweet Syndrome and Therapy-Related Myelodysplastic Syndrome After B-Cell Lymphoma Treatment: A Case Report.

The American journal of case reports
2025

Identification and Confirmation of Myeloid/Lymphoid Neoplasms with Fibroblast Growth Factor Receptor 1 Rearrangement and Characterization of Treatment Patterns and Outcomes in a Real-World Setting: A US Retrospective Chart Review.

Acta haematologica
2025

Role of allo-HCT in "nonclassical" MPNs and MDS/MPNs: recommendations from the PH&G Committee and the CMWP of the EBMT.

Blood
2024

Acute myeloid leukemia developed through myeloproliferative features during immunosuppressive therapy for juvenile idiopathic arthritis.

The journal of medical investigation : JMI
2024

Clinical Characteristics and Diagnosis of Nonaccelerating MDS/MPN-U Patient with 5q- Karyotype.

Clinical laboratory
2024

Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study.

International journal of molecular sciences
2024

Prognostic Value of Pretreatment Fetal Hemoglobin Levels in Patients with Myelodysplastic Syndromes and Acute Myeloid Leukemia Treated with Azacitidine: A Single-center Retrospective Study.

Internal medicine (Tokyo, Japan)
2023

Recurrent bilateral adrenal infarction with myelodysplastic/myeloproliferative neoplasm-unclassifiable (MDS/MPN-U): a case report.

BMC endocrine disorders
2023

A case of Behçet's-like disease associated with trisomy 8-positive myelodysplastic syndrome carrying MEFV E148Q variant presented with periodic fever.

Modern rheumatology case reports
2022

A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report.

Molecular cytogenetics
2023

Allogeneic hematopoietic cell transplantation for myelodysplastic syndrome unclassifiable - a retrospective study on behalf of the Chronic Malignancies Working Party of the EBMT.

Bone marrow transplantation
2022

[Perforated upper gastrointestinal ulcers potentially attributable to mycophenolate mofetil after allogeneic hematopoietic stem cell transplantation].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2023

The International Consensus Classification of myelodysplastic syndromes and related entities.

Virchows Archiv : an international journal of pathology
2022

[Haploidentical hematopoietic stem cell transplantation for graft failure in myelodysplastic syndrome/myeloproliferative neoplasm-unclassifiable complicated with Stenotrophomonas maltophilia bacteremia].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2021

Examining disease boundaries: Genetics of myelodysplastic/myeloproliferative neoplasms.

EJHaem
2022

Automated analysers underestimate atypical basophil count in myeloid neoplasms.

International journal of laboratory hematology
2022

Clinical Application for Diagnosis of Myelodysplatic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis.

Clinical laboratory
2021

MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and KANSL1-MTCP1/CMC4 Fusion Gene.

Cytogenetic and genome research
2021

Hybrid or Mixed Myelodysplastic/Myeloproliferative Disorders - Epidemiological Features and Overview.

Frontiers in oncology
2022

Myelodysplastic/myeloproliferative neoplasms-unclassifiable with isolated isochromosome 17q represents a distinct clinico-biologic subset: a multi-institutional collaborative study from the Bone Marrow Pathology Group.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2021

Real-world assessment of the effectiveness of posaconazole for the prophylaxis and treatment of invasive fungal infections in hematological patients: A retrospective observational study.

Medicine
2021

A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.

European journal of medical genetics
2021

Development of a myelodysplastic/myeloproliferative neoplasm-unclassifiable in a patient with acute myeloid leukemia: a case report and literature review.

The Journal of international medical research
2022

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.

The Journal of allergy and clinical immunology
2021

Co-occurrence of unclassified myeloproliferative neoplasm and giant cell arteritis in a patient treated with allogeneic hematopoietic stem cell transplantation: a case report and literature review.

Central-European journal of immunology
2021

Favorable outcome of a patient with an unclassifiable myelodysplastic syndrome/myeloproliferative neoplasm treated with allogeneic hematopoietic stem cell transplantation.

SAGE open medical case reports
2021

Are We Undercounting MDS? An Analysis of Incidence Patterns of Myelodysplastic Syndromes in SEER 21 Regions: 2001-2016.

Journal of registry management
2021

Journal of Registry Management Continuing Education Quiz-WINTER 2021: Are We Undercounting MDS? An Analysis of Incidence Patterns of Myelodysplastic Syndromes in Seer 21 Regions: 2001-2016.

Journal of registry management
2020

Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.

Hematology. American Society of Hematology. Education Program
2020

Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes: a focused review.

Hematology. American Society of Hematology. Education Program
2022

Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.

Hematology/oncology and stem cell therapy
2020

Comparison and Implications of Mutational Profiles of Myelodysplastic Syndromes, Myeloproliferative Neoplasms, and Myelodysplastic/Myeloproliferative Neoplasms: A Meta-Analysis.

Frontiers in oncology
2020

Ruxolitinib Plus Decitabine Effectively Treats Myelodysplastic Syndrome/Myeloproliferative Neoplasm, Unclassifiable, by Decreasing the Variant Allele Frequency of KRAS.

OncoTargets and therapy
2020

Oligomonocytic and overt chronic myelomonocytic leukemia show similar clinical, genomic, and immunophenotypic features.

Blood advances
2020

Molecular genetics of MDS/MPN overlap syndromes.

Best practice &amp; research. Clinical haematology
2020

Viral metagenomics reveals diverse anelloviruses in bone marrow specimens from hematologic patients.

Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology
2020

Salvage Transplantation with Cord Blood for Graft Rejection of Peripheral Blood Stem Cells due to Donor Specific Antibody.

Blood cell therapy
2020

Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms.

Blood
2020

Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): More than just a "catch-all" term?

Best practice &amp; research. Clinical haematology
2020

Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Myelodysplastic/Myeloproliferative Neoplasms-Unclassifiable: A Retrospective Nationwide Study of the Japan Society for Hematopoietic Cell Transplantation.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
2019

A case of myelodysplastic syndrome with t(10;18)(q26;q21).

Journal of laboratory physicians
2020

Iron chelation therapy for myelodysplastic syndrome: a systematic review and meta-analysis.

Clinical and experimental medicine
2019

Genetic alterations in 47 patients with a novel myelodysplastic syndrome diagnosis at a single center.

Oncology letters
2019

Clinical outcome of patients diagnosed with myelodysplastic syndrome-unclassifiable (MDS-U): single center experience.

Leukemia &amp; lymphoma
2020

Clinicopathologic characteristics, prognostication and treatment outcomes for myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): Mayo Clinic-Moffitt Cancer Center study of 135 consecutive patients.

Leukemia
2019

Outcome of Myelodysplastic Syndromes Over Time in the United States: A National Cancer Data Base Study From 2004-2013.

Mayo Clinic proceedings
2019

Genomic landscape of neutrophilic leukemias of ambiguous diagnosis.

Blood
2020

Diagnostic Value of Flow Cytometry Standardized Using the European LeukemiaNet for Myelodysplastic Syndrome.

Acta haematologica
2019

A case of central nervous system graft-versus-host disease following allogeneic stem cell transplantation.

International journal of hematology
2019

t(3;8)(q26.2;q24) Often Leads to MECOM/MYC Rearrangement and Is Commonly Associated with Therapy-Related Myeloid Neoplasms and/or Disease Progression.

The Journal of molecular diagnostics : JMD
2019

Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).

Clinical lymphoma, myeloma &amp; leukemia
2018

Methylation level of Rap1GAP and the clinical significance in MDS.

Oncology letters
2019

Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes.

Haematologica
2019

Inflammatory disorders associated with trisomy 8-myelodysplastic syndromes: French retrospective case-control study.

European journal of haematology
2018

Autoimmune manifestations associated with myelodysplastic syndromes.

Annals of hematology
2018

Leukaemia and myeloid malignancy among people exposed to low doses (<100 mSv) of ionising radiation during childhood: a pooled analysis of nine historical cohort studies.

The Lancet. Haematology
2018

Atypical chronic myeloid leukaemia: A case of an orphan disease-A multicenter report by the Polish Adult Leukemia Group.

Hematological oncology
2017

[Gene mutations from 511 myelodysplastic syndromes patients performed by targeted gene sequencing].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2018

3q26/EVI1 rearrangement in myelodysplastic/myeloproliferative neoplasms: An early event associated with a poor prognosis.

Leukemia research
2017

Myelodysplastic Syndrome, Unclassifiable (MDS-U) With 1% Blasts Is a Distinct Subgroup of MDS-U With a Poor Prognosis.

American journal of clinical pathology
2017

MDS classification is improving in an era of the WHO 2016 criteria of MDS: A population-based analysis among 9159 MDS patients diagnosed in the Netherlands.

Cancer epidemiology
2017

Oligomonocytic chronic myelomonocytic leukemia (chronic myelomonocytic leukemia without absolute monocytosis) displays a similar clinicopathologic and mutational profile to classical chronic myelomonocytic leukemia.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2016

Suspected myelodysplastic/myeloproliferative neoplasm in a feline leukemia virus-negative cat.

Veterinary clinical pathology
2016

Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.

Cancer biology &amp; medicine
2017

Allogeneic hematopoietic stem cell transplant in adult patients with myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes.

Leukemia &amp; lymphoma
2016

An Exercise in Extrapolation: Clinical Management of Atypical CML, MDS/MPN-Unclassifiable, and MDS/MPN-RS-T.

Current hematologic malignancy reports
2016

Context Matters: Distinct Disease Outcomes as a Result of Crebbp Hemizygosity in Different Mouse Bone Marrow Compartments.

PloS one
2016

[Identification of human erythroid lineage-committed progenitors].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2016

Genomic profiling and directed ex vivo drug analysis of an unclassifiable myelodysplastic/myeloproliferative neoplasm progressing into acute myeloid leukemia.

Genes, chromosomes &amp; cancer
2016

Spectrum of the WHO Classification De Novo Myelodysplastic Syndrome: Experience from Southern Pakistan.

Asian Pacific journal of cancer prevention : APJCP
2016

Myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable; rare cause of granulocytic sarcoma: A diagnostic dilemma.

Indian journal of pathology &amp; microbiology
2016

Impact of centralized evaluation of bone marrow histology in systemic mastocytosis.

European journal of clinical investigation
2015

[Lenalidomide treatment in myelodysplastic syndrome with 5q deletion--Czech MDS group experience].

Vnitrni lekarstvi
2015

Clinical validation of a multipurpose assay for detection and genotyping of CALR mutations in myeloproliferative neoplasms.

American journal of clinical pathology
2016

Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study.

Rheumatology (Oxford, England)
2015

[Current problems in the diagnosis of Philadelphia-negative myeloproliferative neoplasms in Japan].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2015

Prospective isolation of human erythroid lineage-committed progenitors.

Proceedings of the National Academy of Sciences of the United States of America
2015

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Journal of medical genetics
2015

[Analysis of the karyotype abnormalities and its prognostic in 298 patients with myelodysplastic syndrome].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2015

Flow cytometry immunophenotypic analysis of Philadelphia-negative myeloproliferative neoplasms: Correlation with histopathologic features.

Cytometry. Part B, Clinical cytometry

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome mielodisplásica, não classificada.

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 Síndrome mielodisplásica, não classificada

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. JAK2V617F reprograms Hypoxia Inducible Factor-1 to induce a non-canonical hypoxia regulon in myeloproliferative neoplasms.
    Leukemia· 2026· PMID 41629621mais citado
  2. Role of allo-HCT in "nonclassical" MPNs and MDS/MPNs: recommendations from the PH&amp;G Committee and the CMWP of the EBMT.
    Blood· 2025· PMID 40106773mais citado
  3. Complex Interplay Between Sweet Syndrome and Therapy-Related Myelodysplastic Syndrome After B-Cell Lymphoma Treatment: A Case Report.
    The American journal of case reports· 2025· PMID 40785134mais citado
  4. Identification and Confirmation of Myeloid/Lymphoid Neoplasms with Fibroblast Growth Factor Receptor 1 Rearrangement and Characterization of Treatment Patterns and Outcomes in a Real-World Setting: A US Retrospective Chart Review.
    Acta haematologica· 2025· PMID 40618748mais citado
  5. Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study.
    International journal of molecular sciences· 2024· PMID 39337700mais citado
  6. Clinical Characteristics and Diagnosis of Nonaccelerating MDS/MPN-U Patient with 5q- Karyotype.
    Clin Lab· 2024· PMID 39382936recente
  7. Prognostic Value of Pretreatment Fetal Hemoglobin Levels in Patients with Myelodysplastic Syndromes and Acute Myeloid Leukemia Treated with Azacitidine: A Single-center Retrospective Study.
    Intern Med· 2024· PMID 37495538recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98827(Orphanet)
  2. MONDO:0020315(MONDO)
  3. Síndrome Mielodisplásica de Baixo Risco(PCDT · Ministério da Saúde)
  4. Busca completa no PubMed(PubMed)
  5. Q55789296(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

Síndrome mielodisplásica, não classificada
Compêndio · Raras BR

Síndrome mielodisplásica, não classificada

ORPHA:98827 · MONDO:0020315
🇧🇷 Brasil SUS
Geral
Prevalência
Unknown
Herança
Not applicable
CID-10
D46.7 · Outras síndromes mielodisplásicas
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5681636
EuropePMC
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades