Raras
Buscar doenças, sintomas, genes...
Neoplasia mielodisplásica com excesso de blastos
ORPHA:86839CID-10 · D46.2CID-11 · 2A35DOENÇA RARA

Uma síndrome mielodisplásica caracterizada pela presença de 5-19% de mieloblastos na medula óssea ou 2-19% de blastos no sangue periférico. Ela se divide em duas categorias: síndrome mielodisplásica com excesso de blastos-1 e síndrome mielodisplásica com excesso de blastos-2.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma síndrome mielodisplásica caracterizada pela presença de 5-19% de mieloblastos na medula óssea ou 2-19% de blastos no sangue periférico. Ela se divide em duas categorias: síndrome mielodisplásica com excesso de blastos-1 e síndrome mielodisplásica com excesso de blastos-2.

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
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D46.2
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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
5 sintomas
🩸
Sangue
5 sintomas
🛡️
Imunológico
1 sintomas
👁️
Olhos
1 sintomas
🫁
Pulmão
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Fadiga
Muito frequente (99-80%)
90%prev.
Anemia por produção inadequada
Muito frequente (99-80%)
55%prev.
Palpitações
Frequente (79-30%)
55%prev.
Palidez anêmica
Frequente (79-30%)
55%prev.
Febre
Frequente (79-30%)
55%prev.
Dispneia de esforço
Frequente (79-30%)
22sintomas
Muito frequente (2)
Frequente (4)
Ocasional (16)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.

FadigaFatigue
Muito frequente (99-80%)90%
Anemia por produção inadequadaAnemia of inadequate production
Muito frequente (99-80%)90%
PalpitaçõesPalpitations
Frequente (79-30%)55%
Palidez anêmicaAnemic pallor
Frequente (79-30%)55%
FebreFever
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos161publicações
Pico201631 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2016Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

TET2Methylcytosine dioxygenase TET2Candidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

NucleusChromosome

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

Variantes genéticas (ClinVar)

233 variantes patogênicas registradas no ClinVar.

🧬 TET2: NM_001127208.3(TET2):c.3691_3697del (p.Leu1231fs) ()
🧬 TET2: NM_001127208.3(TET2):c.4146_4147del (p.His1382fs) ()
🧬 TET2: NM_001127208.3(TET2):c.2079del (p.Lys693fs) ()
🧬 TET2: NM_001127208.3(TET2):c.2249_2252del (p.Ile750fs) ()
🧬 TET2: NM_001127208.3(TET2):c.3500+2del ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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 24
1Fase 11
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Neoplasia mielodisplásica com excesso de blastos

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

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

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

The emerging role of plasmacytoid dendritic cell proliferation in acute myeloid leukemia.

Leukemia research2026 Mar 11

The mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm represents a clonal proliferation of plasmacytoid dendritic cells within myeloproliferative and myelodysplastic disorders. This entity was recently recognized as a distinct condition in the fifth edition of the World Health Organization classification of hematolymphoid tumors. It occurs in approximately 4.9% of acute myeloid leukemia cases. The pathogenic mechanisms underlying this proliferation and the role of these cells in disease progression remain poorly understood. Nevertheless, the plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia is related to distinct genetic abnormalities, worse prognosis, reduced overall survival, lower sensitivity to conventional acute myeloid leukemia therapies, and an increased risk of relapse. It also displays distinct immunophenotypic features compared to other types of mature plasmacytoid dendritic cell proliferation, raising questions about its classification and diagnostic criteria. This review provides a comprehensive overview of current knowledge regarding the plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia, including terminology inconsistencies; the role of plasmacytoid dendritic cells in this entity; associated genetic alterations; immunophenotypic and morphological characteristics of blasts and plasmacytoid dendritic cells; clinical outcomes and prognostic impact; and therapeutic approaches and perspectives. Synthesizing current evidence may help improve disease recognition and highlight gaps in knowledge to guide future research.

#2

Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia with KMT2A Partial Tandem Duplication and Are Associated with FLT3 Internal Tandem Duplication.

Cancers2026 Jan 16

KMT2A partial tandem duplication (PTD) occurs in approximately 5-10% of acute myeloid leukemia (AML) cases and is associated with poor prognosis. While its cytogenetic and molecular features are well described, the immunophenotypic characteristics of AML with KMT2A-PTD remain incompletely defined. We identified 47 cases of AML with KMT2A-PTD by optical genome mapping. All cases underwent flow cytometric immunophenotypic analysis and next-generation sequencing using an 81-gene panel. The cohort included 32 men and 15 women with a median age of 67 years (range, 19-87). Thirty-eight cases were de novo AML, and nine were secondary to myelodysplastic syndrome and/or myeloproliferative neoplasm. Most cases (93%) demonstrated a normal or non-complex karyotype. The most frequent mutations involved FLT3-ITD (47%), DNMT3A (43%), and RUNX1 (23%). Thirty-one cases (66%) were granulocytic, while 16 (34%) showed granulocytic and/or monocytic differentiation. Blasts uniformly expressed HLA-DR and frequently expressed CD117 (91%) and CD34 (79%). Increased expression of CD123 (74%) and CD117 (43%) and decreased expression of HLA-DR (74%) and CD38 (69%) were common. Aberrant CD25 expression was observed in 51% of cases. Increased CD123 and aberrant CD25 expression were significantly associated with FLT3-ITD mutations (both p < 0.0001) but not with other recurrent mutations. There was no correlation between FLT3-ITD mutation and expression levels of CD117, CD38 or HLA-DR (all p > 0.05). AML with KMT2A-PTD shows distinctive immunophenotypic features with increased CD123 and aberrant CD25 expression, both associated with FLT3-ITD. These markers may have diagnostic and therapeutic relevance in this AML subtype.

#3

The Role of Iron-Overloaded Macrophages in Mesenchymal Stem Cell Senescence and Anemia in Myelodysplastic Syndromes: Protocol for an In Vitro Study.

JMIR research protocols2026 Jan 13

Myelodysplastic syndromes (MDSs) are a group of highly heterogeneous myeloid clonal diseases. Anemia is the most common clinical symptom, yet its pathogenesis remains incompletely understood. Preliminary evidence suggests an increase in macrophage infiltration and iron load in the bone marrow of patients with an MDS, alongside elevated interleukin-6 (IL-6) expression in bone marrow mesenchymal stem cells (BMSCs). The Kelch-like ECH-associated protein 1 (Keap1)-nuclear factor erythroid 2-related factor 2 (Nrf2)-antioxidant response element (ARE) pathway is a critical regulator of cellular antioxidant responses and inflammation, but its role in mediating the effects of iron overload in the microenvironment of patients with an MDS remains unclear. This study aims to investigate the hypothesis that iron-overloaded bone marrow macrophages promote BMSC senescence and IL-6 secretion via the Keap1-Nrf2-ARE pathway, thereby impairing the survival and differentiation of hematopoietic stem cells and hematopoietic progenitor cells and contributing to anemia. Specific objectives are to (1) quantify the macrophage iron load across major MDS subtypes and correlate it with anemia severity and prognosis; (2) define the phenotype of erythroid island macrophages (CD68+, CD169+, and vascular cell adhesion molecule 1+) and the expression of endothelial microparticles in bone marrow tissues of patients with an MDS; and (3) experimentally test whether iron-overloaded macrophages and their exosomes regulate IL-6 secretion and senescence in BMSCs via the Keap1-Nrf2-ARE pathway. Bone marrow samples will be collected from patients with key MDS subtypes (MDS with single-lineage dysplasia, refractory anemia with ring sideroblasts, MDS with multilineage dysplasia, and MDS with excess blasts; n=30 per subgroup) and control patients with iron-deficiency anemia (n=30). Methods will include histochemistry (Perls Prussian blue staining), immunohistochemistry and immunofluorescence (for macrophage and endothelial microparticle analysis), enzyme-linked immunosorbent assay, flow cytometry, quantitative polymerase chain reaction, and Western blotting. An in vitro model of iron-overloaded macrophages will be established using phorbol 12-myristate 13-acetate-differentiated THP-1 cells treated with ferric ammonium citrate. Exosomes will be isolated from these macrophages via ultracentrifugation. The effects of iron-overloaded macrophages and their exosomes on BMSC IL-6 secretion, senescence (senescence-associated β-galactosidase staining), and Keap1-Nrf2-ARE pathway activity will be assessed in coculture systems, with and without pharmacological inhibitors (5,6-dichloro-1-β-D-ribofuranosylbenzimidazole) or activators (dimethyl fumarate) of Nrf2. The study received ethics approval in December 2024. Patient recruitment and sample collection are in progress. As of December 2025, a total of 85 samples had been accrued. Pilot experiments to optimize macrophage differentiation and iron loading conditions have been completed. The full experimental workflow, including all sample analyses and in vitro experiments, is anticipated to be completed by May 2026. This study is expected to elucidate a novel molecular mechanism linking iron overload in macrophages to BMSC dysfunction and anemia in MDS. The findings could identify the Keap1-Nrf2-ARE pathway as a potential therapeutic target for managing MDS-related anemia. DERR1-10.2196/77936.

#4

Blood biomarkers are altered in elderly hematological patients exhibiting a mosaic loss of the Y chromosome in bone marrow cells.

BMC cancer2025 Jul 11

Mosaic loss of the Y chromosome (LOY) is a frequent somatic alteration observed in aging males, linked to clonal hematopoiesis and elevated risks of hematologic malignancies. However, the direct physiological implications of LOY in elderly patients with hematologic disorders remain unclear. We investigated blood biomarker changes associated with LOY in elderly male patients with hematologic malignancies. We retrospectively analyzed 196 elderly male patients (median age, 71 years) with LOY detected via bone marrow karyotyping (2017-2022). Participants were stratified into four groups: no disease (n = 22); acute myelogenous leukemia, myelodysplastic syndrome (including refractory anemia [RA], refractory anemia with excess blasts [RAEB], and RAEB in transformation [RAEB-T]), chronic myelomonocytic leukemia (CMML) (AML/MDS group, n = 52); multiple myeloma (MM, n = 37); and chronic lymphocytic leukemia (CLL), Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL) (CLL/lymphoma group, n = 85). Controls (n = 120) exhibited normal 46,XY karyotypes. Blood markers (n = 22)-including blood cell counts, cytokines, immunoglobulins, and thyroid hormones-were assessed using non-parametric tests and multivariate regression analysis. LOY was detected in 4% of patients (3% pure LOY, 1% LOY with additional abnormalities). AML/MDS patients with LOY were younger (median 68.5 vs. 75.5 years in no-disease, p = 0.004) and exhibited higher LOY burden (60% vs. 33% in CLL/lymphoma, p < 0.001). Multivariate analysis revealed age as an independent risk factor for AML/MDS (p = 0.002), while LOY burden specifically correlated with CLL/lymphoma (p = 0.012). Distinct biomarker profiles emerged: LOY-positive AML/MDS patients showed reduced hemoglobin, platelets, and cytokines (e.g., reduced interleukin-2, interferon-gamma) versus controls (p < 0.05), whereas CLL/lymphoma cases correlated with decreased immunoglobulins (IgM) and cytokines (e.g., interleukin-4, interleukin-17 A). Notably, individuals without hematologic disease exhibited stable biomarker profiles irrespective of LOY status, suggesting context-dependent effects of LOY. A high LOY burden (≥ 75%) was associated with cytopenias in AML/MDS, characterized by decreased white blood cell (WBC) count, neutrophil count (NEC), and platelet (PLT) count (p < 0.05). LOY exhibits disease-specific associations with immune-metabolic dysregulation, particularly in AML/MDS and CLL/lymphoma. Its varying burden and biomarker profiles suggest potential utility in risk stratification, warranting further prospective validation.

#5

Effect of peritransplant measurable residual disease clearance in patients with myelodysplastic neoplasm: a referral center experience.

Experimental hematology2025 Aug

Pre-allogeneic stem cell transplant (pre-HSCT) measurable residual disease (MRD) is increasingly recognized as a prognostic marker. However, the MRD status in myelodysplastic neoplasm (MDS) or myelodysplastic/myeloproliferative neoplasm (MDS/MPN) are less well-defined. We performed a retrospective chart review of adults who underwent HSCT for MDS or MDS/MPN in 2012-2023 and evaluated the effect of pre-HSCT MRD status on relapse-free survival (RFS) and overall survival (OS). A conditional analysis of outcomes based on day+90 post-HSCT MRD status was also performed. There were 38 and 55 patients in MRD- and MRD+ cohorts respectively. Baseline patient characteristics, including age, Revised and Molecular International Prognostic Scores (IPSS-R and IPSS-M), and HSCT-related factors were similar between cohorts. The MRD+ cohort had inferior RFS (HR: 1.84, 95% CI: 1.09-3.12, p = 0.02) but a statistically significant difference in OS was not evidenced (HR: 1.52, 95% CI: 0.88-2.61, p = 0.14). After adjusting for % blasts at diagnosis, and conditioning intensity, patients in MRD+ cohort were 1.92 times at increased risk of relapse or death (95% CI: 1.12-3.28, p = 0.02). Additionally, increasing IPSS-M score was associated with poorer RFS (HR: 1.27, 95% CI: 1.01-1.59, p = 0.04) and OS (HR: 1.52, 95% CI: 1.20-1.91, p < 0.01). Among patients who were alive and in remission until day +90 post-HSCT, the pre-HSCT MRD status did not confer a statistically significant difference in RFS and OS if they became MRD- by day +90 post-HSCT. Post-HSCT MRD surveillance should be performed routinely in MDS patients.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 161

2026

The emerging role of plasmacytoid dendritic cell proliferation in acute myeloid leukemia.

Leukemia research
2026

Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia with KMT2A Partial Tandem Duplication and Are Associated with FLT3 Internal Tandem Duplication.

Cancers
2026

The Role of Iron-Overloaded Macrophages in Mesenchymal Stem Cell Senescence and Anemia in Myelodysplastic Syndromes: Protocol for an In Vitro Study.

JMIR research protocols
2025

Blood biomarkers are altered in elderly hematological patients exhibiting a mosaic loss of the Y chromosome in bone marrow cells.

BMC cancer
2025

Effect of peritransplant measurable residual disease clearance in patients with myelodysplastic neoplasm: a referral center experience.

Experimental hematology
2025

RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature.

Hematology (Amsterdam, Netherlands)
2025

Moderate-To-Severe Bone Marrow Fibrosis Is an Independent Risk Factor For Myelodysplastic Neoplasms Patients With Increased Blasts.

Hematological oncology
2024

[New insights into the nature and classification of myelodysplastic neopmasm].

Zhonghua yi xue za zhi
2024

Flow cytometry in the differential diagnosis of myelodysplastic neoplasm with low blasts and cytopenia of other causes.

Pathology oncology research : POR
2024

A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists.

Cancer genetics
2024

Multiple autoimmune disorders refractory to glucocorticoids after allogeneic hematopoietic stem cell transplantation: a case report and review of the literature.

Frontiers in immunology
2024

Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.

Annals of diagnostic pathology
2024

Blast Phase of Myeloproliferative Neoplasm Resembles Acute Myeloid Leukemia, Myelodysplasia-Related, in Clinical Presentation, Cytogenetic Pattern, and Genomic Profile, and Often Undergoes Reversion to Second Chronic Phase Status After Induction Chemotherapy.

Archives of pathology &amp; laboratory medicine
2024

Lack of Content Uniformity in Azacitidine Vials.

Contact in context
2024

Clinical Outcomes in Patients With Refractory Anemia With Excess Blasts (RAEB) Who Receive Hypomethylating Agents (HMAs).

Clinical lymphoma, myeloma &amp; leukemia
2023

CD72 is a pan-tumor antigen associated to pediatric acute leukemia.

Cytometry. Part A : the journal of the International Society for Analytical Cytology
2023

A longitudinal analysis of paroxysmal nocturnal haemoglobinuria-type cells in patients with bone marrow failure: Results of a prospective multi-centre study in Japan.

British journal of haematology
2023

Targeted NGS on sequential bone marrow biopsies aids in the evaluation of cytopenias and monocytosis and documents clonal evolution-a proof of principle study.

Virchows Archiv : an international journal of pathology
2024

Single-unit unrelated cord blood transplantation versus HLA-matched sibling transplantation in adults with advanced myelodysplastic syndrome: A registry-based study from the adult MDS working group of the Japanese society for transplantation and cellular therapy.

Hematological oncology
2023

Tuberculosis-induced aplastic crisis and atypical lymphocyte expansion in advanced myelodysplastic syndrome: A case report and review of literature.

World journal of clinical cases
2023

Flared inflammatory episode transforms advanced myelodysplastic syndrome into aplastic pancytopenia: A case report and literature review.

World journal of clinical cases
2023

Case Series Using Salvage Haplo-Identical Stem Cells for Secondary Transplantation.

Medicina (Kaunas, Lithuania)
2023

Evaluation of in vitro rat and human airway epithelial models for acute inhalation toxicity testing.

Toxicological sciences : an official journal of the Society of Toxicology
2023

The effect of granulocyte-colony stimulating factor, decitabine, and busulfan-cyclophosphamide versus busulfan-cyclophosphamide conditioning on relapse in patients with myelodysplastic syndrome or secondary acute myeloid leukaemia evolving from myelodysplastic syndrome undergoing allogeneic haematopoietic stem-cell transplantation: an open-label, multicentre, randomised, phase 3 trial.

The Lancet. Haematology
2023

ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.

Cancer
2023

Comparison of demographics, disease characteristics, and outcomes between Black and White patients with myelodysplastic syndromes: A population-based study.

Leukemia research
2022

Many faces of SF3B1-mutated myeloid neoplasms: concurrent mutational profiles contribute to the diverse clinical and morphologic features.

Human pathology
2022

Co-occurrence of myeloid neoplasm and plasma cell neoplasm.

Autopsy &amp; case reports
2022

Impact of Hypomethylating Agent Use on Hospital and Emergency Room Visits, and Predictors of Early Discontinuation in Patients With Higher-Risk Myelodysplastic Syndromes.

Clinical lymphoma, myeloma &amp; leukemia
2022

Prospective comparison of 5- and 7-day administration of azacitidine for myelodysplastic syndromes: a JALSG MDS212 trial.

International journal of hematology
2022

[Clinical Efficacy of Haplo-HSCT of ATG Combined with PTCy for Children with Myelodysplastic Syndrome].

Zhongguo shi yan xue ye xue za zhi
2022

Incidence and survival estimates for patients with myelodysplastic syndrome in the early 21st century: no evidence of improvement over time.

Leukemia &amp; lymphoma
2022

Concurrent ankylosing spondylitis and myelodysplastic syndrome: A case report.

World journal of clinical cases
2022

Distinct pathologic feature of myeloid neoplasm with t(v;11p15); NUP98 rearrangement.

Human pathology
2021

RAEB II type of myelodysplastic syndrome associated with axillary abscesses - Case Report.

Annals of agricultural and environmental medicine : AAEM
2022

The WHO 2016 diagnostic criteria for Acute Myeloid leukemia with myelodysplasia related changes (AML-MRC) produce a very heterogeneous entity: A retrospective analysis of the FAB subtype RAEB-T.

Leukemia research
2021

Gene mutation spectrum of patients with myelodysplastic syndrome and progression to acute myeloid leukemia.

International journal of hematologic oncology
2021

Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome.

Clinical epigenetics
2021

[Diagnosis and treatment of childhood myelodysplastic syndrome].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2021

Myelodysplastic syndrome patients display alterations in their immune status reflected by increased PD-L1-expressing stem cells and highly dynamic exhausted T-cell frequencies.

British journal of haematology
2021

Double minute chromosomes in acute myeloid leukemia and myelodysplastic syndromes are associated with complex karyotype, monosomal karyotype, TP53 deletion, and TP53 mutations.

Leukemia &amp; lymphoma
2021

Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

American journal of cancer research
2021

Identification of circular RNAs as novel biomarkers and potentially functional competing endogenous RNA network for myelodysplastic syndrome patients.

Cancer science
2021

Direct Medical Costs Associated With Treatment Nonpersistence in Patients With Higher-Risk Myelodysplastic Syndromes Receiving Hypomethylating Agents: A Large Retrospective Cohort Analysis.

Clinical lymphoma, myeloma &amp; leukemia
2021

Under-use of Hypomethylating Agents in Patients With Higher-risk Myelodysplastic Syndrome in the United States: A Large Population-based Analysis.

Clinical lymphoma, myeloma &amp; leukemia
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

Panobinostat and decitabine prior to donor lymphocyte infusion in allogeneic stem cell transplantation.

Blood advances
2020

The impact of transfusion burden and comorbidities on the prognosis of patients with myelodysplastic syndromes.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2020

Combination treatment with CPX-351 and midostaurin in patients with secondary acute myeloid leukaemia that are FLT3 mutated: three cases and review of literature.

British journal of haematology
2020

[Clinical Comparation of Two Kinds of Chemotherapy Regimens in the Treatment of Patients with MDS-RAEB/AML-MRC].

Zhongguo shi yan xue ye xue za zhi
2020

Epigenetic priming with decitabine followed by low dose idarubicin and cytarabine in acute myeloid leukemia evolving from myelodysplastic syndromes and higher-risk myelodysplastic syndromes: a prospective multicenter single-arm trial.

Hematological oncology
2020

Lenalidomide Plus Decitabine Treatment in a Myelodysplastic Syndrome Patient With Deletion 5q and Excess Blasts.

Journal of hematology
2020

Epigenetic changes in FOXO3 and CHEK2 genes and their correlation with clinicopathological findings in myelodysplastic syndromes.

Hematology/oncology and stem cell therapy
2020

SETD2 deficiency accelerates MDS-associated leukemogenesis via S100a9 in NHD13 mice and predicts poor prognosis in MDS.

Blood
2020

Nationwide epidemiological survey of familial myelodysplastic syndromes/acute myeloid leukemia in Japan: a multicenter retrospective study.

Leukemia &amp; lymphoma
2020

5-azacitidine reversing "spent" phase polycythemia vera back to proliferative phase and need for phlebotomy.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2020

Hypomethylating agent (HMA) therapy use and survival in older adults with Refractory Anemia with Excess Blasts (RAEB) in the United States (USA): a large propensity score-matched population-based study†.

Leukemia &amp; lymphoma
2019

Donor-derived XYY After BMT From a Healthy Volunteer.

Transplantation
2019

Localized ecthyma gangrenosum without sepsis in a neutropenic patient with a myelodysplastic syndrome-Refractory anemia with excess blasts type 2.

Clinical case reports
2019

[Concurrent CALR and SF3B1 gene mutations in a patient with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2019

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

Mayo Clinic proceedings
2019

[Outcomes and prognostic factors of myelodysplastic syndrome patients with allogeneic hematopoietic stem cell transplantation].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2020

Neutrophilic dermatosis and myelodysplastic syndrome.

Medicina clinica
2019

Histone Deacetylase Inhibition with Panobinostat Combined with Intensive Induction Chemotherapy in Older Patients with Acute Myeloid Leukemia: Phase I Study Results.

Clinical cancer research : an official journal of the American Association for Cancer Research
2019

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.

International journal of laboratory hematology
2019

GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report.

BMC medical genetics
2019

Decitabine improves overall survival in myelodysplastic syndromes-RAEB patients aged ≥60 years and has lower toxicities: Comparison with low-dose chemotherapy.

Blood cells, molecules &amp; diseases
2019

[Comparation of Clinical Efficacy between Two Regimens of Preexcitation Chemotherapy for MDS-RAEB Patients].

Zhongguo shi yan xue ye xue za zhi
2019

Azacitidine maintenance after intensive chemotherapy improves DFS in older AML patients.

Blood
2019

Decitabine for myelodysplastic syndromes: dose comparison in a real world clinical setting.

Leukemia &amp; lymphoma
2018

Increased cardiovascular comorbidities in patients with myelodysplastic syndromes and chronic myelomonocytic leukemia presenting with systemic inflammatory and autoimmune manifestations.

Seminars in hematology
2019

Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.

Annals of hematology
2019

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

Haematologica
2018

A t(3;8)(q26.2;q24) involving the EVI1 (MECOM) Gene.

Journal of the Association of Genetic Technologists
2018

Myelodysplastic syndrome with fibrosis and complex karyotype arising in a patient with essential thrombocythaemia.

The Malaysian journal of pathology
2018

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41.

Genes, chromosomes &amp; cancer
2018

Hematopoietic cell transplant for acute myeloid leukemia and myelodysplastic syndrome: conditioning regimen intensity.

Blood advances
2018

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.

Molecular cytogenetics
2018

Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML.

Leukemia research
2018

Pentraxin-3 polymorphisms and invasive mold infections in acute leukemia patients receiving intensive chemotherapy.

Haematologica
2018

A rare case of an acquired factor V inhibitor in a patient with myelodysplastic syndrome during azacitidine treatment.

Annals of hematology
2017

Moleculary Confirmed, Cytogenetic Remission in a Case with Myelodysplastic Syndrome Treated with Azacitidne.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2018

How I treat myelodysplastic syndromes of childhood.

Blood
2018

Association of red cell distribution width with clinical outcomes in myelodysplastic syndrome.

Leukemia research
2018

Harnessing the PD-1 Pathway in Myelodysplastic Syndrome.

American journal of therapeutics
2017

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

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2018

The prognostic value of circulating myeloblasts in patients with myelodysplastic syndromes.

Annals of hematology
2017

[Clinical Efficacy of Low-dose Decitabine Combined with CAG Regimen in Patients with Myelodysplastic Syndrome-refractory Anemia with Excess Blasts(MDS-RAEB)].

Zhongguo shi yan xue ye xue za zhi
2017

Transcriptome analysis of CD34+ cells from myelodysplastic syndrome patients.

Leukemia research
2017

[The efficacy and safety of the patients of myelodysplastic syndromes-refractory anemia with excess blasts treated with decitabine alone or CAG/HAG regimen].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2018

Alloimmune hemolysis due to major RhE incompatibility after unrelated cord blood transplantation.

Leukemia &amp; lymphoma
2017

Biologics in myelodysplastic syndrome-related systemic inflammatory and autoimmune diseases: French multicenter retrospective study of 29 patients.

Autoimmunity reviews
2017

TP53 and IDH2 Somatic Mutations Are Associated With Inferior Overall Survival After Allogeneic Hematopoietic Cell Transplantation for Myelodysplastic Syndrome.

Clinical lymphoma, myeloma &amp; leukemia
2017

Severe atypical herpes zoster as an initial symptom of fatal myelodysplastic syndrome with refractory anemia and blast excess (RAEB II).

Clinical, cosmetic and investigational dermatology
2017

p53 protein expression in patients with myelodysplasia treated with allogeneic bone marrow transplantation.

Molecular and clinical oncology
2017

A phase 1 study of the CXCR4 antagonist plerixafor in combination with high-dose cytarabine and etoposide in children with relapsed or refractory acute leukemias or myelodysplastic syndrome: A Pediatric Oncology Experimental Therapeutics Investigators' Consortium study (POE 10-03).

Pediatric blood &amp; cancer
2017

Cytogenetics and comorbidity predict outcomes in older myelodysplastic syndrome patients after allogeneic stem cell transplantation using reduced intensity conditioning.

Cancer
2017

Enhanced plasma protein carbonylation in patients with myelodysplastic syndromes.

Free radical biology &amp; medicine
2017

Erythrophagocytosis by blasts in a case of de novo acute monoblastic leukemia with rare but characteristic t(8;16).

Journal of postgraduate medicine
2017

Clinical, hematological, and cytogenetic profile of adult myelodysplastic syndrome in a tertiary care center.

Journal of blood medicine
2017

Erythrocytosis after allogeneic hematopoietic stem cell transplantation.

Clinical transplantation
2017

Decitabine priming prior to low-dose chemotherapy improves patient outcomes in myelodysplastic syndromes-RAEB: a retrospective analysis vs. chemotherapy alone.

Journal of cancer research and clinical oncology
2017

[Large vessel vasculitis with myelodysplastic syndrome: A rare association].

La Revue de medecine interne
2016

Acquired elliptocytosis in the setting of a refractory anemia with excess blasts and del(20q).

Blood
2017

Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2017

The effects of azacitidine on the response and prognosis of myelodysplastic syndrome and acute myeloid leukemia involving a bone marrow erythroblast frequency of >50.

Leukemia research
2016

Myelodysplastic and myeloproliferative disorders of childhood.

Hematology. American Society of Hematology. Education Program
2017

Allogeneic haematopoietic stem cell transplant in patients with lower risk myelodysplastic syndrome: a retrospective analysis on behalf of the Chronic Malignancy Working Party of the EBMT.

Bone marrow transplantation
2017

Pseudo-Chédiak-Higashi granules and other unusual cytoplasmic inclusions in refractory anaemia with excess blasts-2.

British journal of haematology
2016

[Analysis of the impact of decitabine treatment cycles on efficacy and safety in patients of myelodysplastic syndrome-refractory anemia with excess blasts].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2017

Characteristics of the phenotypic abnormalities of bone marrow cells in childhood myelodysplastic syndromes and juvenile myelomonocytic leukemia.

Pediatric blood &amp; cancer
2016

Changes in the Updated 2016: WHO Classification of the Myelodysplastic Syndromes and Related Myeloid Neoplasms.

Clinical lymphoma, myeloma &amp; leukemia
2017

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Haematologica
2016

Comparative clinical effectiveness of azacitidine versus decitabine in older patients with myelodysplastic syndromes.

British journal of haematology
2016

Successful Allogenic Haematopoietic Stem Cell Transplantation in a Boy with Hemophilia A and MDS-RAEB.

Klinische Padiatrie
2017

Modest improvement in survival of patients with refractory anemia with excess blasts in the hypomethylating agents era in the United States.

Leukemia &amp; lymphoma
2016

Ruxolitinib in steroid refractory graft-vs.-host disease: a case report.

Journal of hematology &amp; oncology
2016

Acute erythroid leukemia with <20% bone marrow blasts is clinically and biologically similar to myelodysplastic syndrome with excess blasts.

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

Considering Bone Marrow Blasts From Nonerythroid Cellularity Improves the Prognostic Evaluation of Myelodysplastic Syndromes.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2016

Myelodysplastic Syndrome with concomitant t(5;21)(q15;q22) and del(5)(q13q33): case report and review of literature.

Stem cell investigation
2016

Monitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome: Comparison With International Working Group Treatment Response Criteria.

Archives of pathology &amp; laboratory medicine
2016

Patients With a History of Chemotherapy and Isolated del(20q) With Minimal Myelodysplasia Have an Indolent Course.

American journal of clinical pathology
2016

Azacitidine versus decitabine in patients with refractory anemia with excess blast-Results of multicenter study.

Leukemia research
2016

Effects of decitabine on megakaryocyte maturation in patients with myelodysplastic syndromes.

Oncology letters
2016

Paclitaxel Induced MDS and AML: A Case Report and Literature Review.

Case reports in oncological medicine
2016

Treatment of pyoderma gangrenosum with thalidomide in a myelodysplastic syndrome case.

International medical case reports journal
2016

Secretion and Expression of Matrix Metalloproteinase-2 and 9 from Bone Marrow Mononuclear Cells in Myelodysplastic Syndrome and Acute Myeloid Leukemia.

Asian Pacific journal of cancer prevention : APJCP
2016

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

Asian Pacific journal of cancer prevention : APJCP
2016

An Unexpected Innocent Complication Associated with Azacitidine Treatment of Myelodysplastic Syndrome: Erythema Annulare Centrifugum.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2016

Role of microRNA-29b in myelodysplastic syndromes during transformation to overt leukaemia.

Pathology
2016

Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

Haematologica
2016

Myelodysplastic Syndrome Revealed by Systems Immunology in a Melanoma Patient Undergoing Anti-PD-1 Therapy.

Cancer immunology research
2016

Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing.

American journal of hematology
2016

Efficacy and safety of homoharringtonine plus cytarabine and aclarubicin for patients with myelodysplastic syndrome-RAEB.

Oncology letters
2016

Infusion of CD3/CD28 costimulated umbilical cord blood T cells at the time of single umbilical cord blood transplantation may enhance engraftment.

American journal of hematology
2016

Low Dose Cytosine Arabinoside and Azacitidine Combination in Elderly Patients with Acute Myeloid Leukemia and Refractory Anemia with Excess Blasts (MDS-RAEB2).

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2016

Genomic loss of EZH2 leads to epigenetic modifications and overexpression of the HOX gene clusters in myelodysplastic syndrome.

Oncotarget
2015

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

Vnitrni lekarstvi
2016

Interactions and relevance of blast percentage and treatment strategy among younger and older patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

American journal of hematology
2016

Primary cutaneous smoldering adult T-cell leukemia/ lymphoma.

Dermatology online journal
2016

Prognostic impact of chromosomal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemia patients. A study by the spanish group of myelodysplastic syndromes.

Genes, chromosomes &amp; cancer
2015

Myeloid Sarcoma of the Bladder in the Setting of Refractory Anemia with Excess Blasts-2 (RAEB-2).

The West Virginia medical journal
2015

[Unidentified Inflammatory Disease Induced by Azacitidine Therapy for Myelodysplastic Syndrome].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2015

[Clinical and cytogenetic study of chromosome 1 abnormality in myelodysplastic syndrome].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2015

Ollier's Disease with Myelodysplastic Syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2015

Plasma Protein Biomarker Candidates for Myelodysplastic Syndrome Subgroups.

BioMed research international
2015

Salvaged single-unit cord blood transplantation for 26 patients with hematologic malignancies not in remission.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
2015

Decitabine versus best supportive care in older patients with refractory anemia with excess blasts in transformation (RAEBt) - results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group (GMDSSG).

Annals of hematology
2015

A Case of Refractory Anemia with Excess Blast-2 with Sole Trisomy 13.

Clinical laboratory
2015

Myelodysplastic syndromes in Chernobyl clean-up workers.

Annals of hematology
2016

Isolated trisomy 13 in refractory anemia with excess blasts: report of two cases and a brief literature review of this possible association.

Leukemia &amp; lymphoma
2015

Marked Hematopoiesis Masquerading Multiple Bone Metastasis in a Lung Cancer Patient With Myelodysplastic Syndrome.

Clinical nuclear medicine
2015

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

Blood
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

Survey of expert opinions and related recommendations regarding bridging therapy using hypomethylating agents followed by allogeneic transplantation for high-risk MDS.

Critical reviews in oncology/hematology
2015

[Treatment of myelodysplastic syndrome by hematopoietic stem cell transplantation combined with Chinese medical syndrome typing: a clinical study].

Zhongguo Zhong xi yi jie he za zhi Zhongguo Zhongxiyi jiehe zazhi = Chinese journal of integrated traditional and Western medicine
2015

The level of bone marrow WT1 message is a useful marker to differentiate myelodysplastic syndromes with low blast percentage from cytopenia due to other reasons.

Internal medicine (Tokyo, Japan)
2015

Refractory thrombocytopenia and neutropenia: a diagnostic challenge.

Mediterranean journal of hematology and infectious diseases
2015

Effects of 5-azacytidine on natural killer cell activating receptor expression in patients with refractory anemia with excess of blasts.

Leukemia research reports
2015

Multicentric study underlining the interest of adding CD5, CD7 and CD56 expression assessment to the flow cytometric Ogata score in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Haematologica
2015

A nationwide non-interventional epidemiological data registry on myelodysplastic syndromes in Lebanon.

American journal of blood research

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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. The emerging role of plasmacytoid dendritic cell proliferation in acute myeloid leukemia.
    Leukemia research· 2026· PMID 41855750mais citado
  2. Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia with KMT2A Partial Tandem Duplication and Are Associated with FLT3 Internal Tandem Duplication.
    Cancers· 2026· PMID 41595200mais citado
  3. The Role of Iron-Overloaded Macrophages in Mesenchymal Stem Cell Senescence and Anemia in Myelodysplastic Syndromes: Protocol for an In Vitro Study.
    JMIR research protocols· 2026· PMID 41529258mais citado
  4. Blood biomarkers are altered in elderly hematological patients exhibiting a mosaic loss of the Y chromosome in bone marrow cells.
    BMC cancer· 2025· PMID 40646469mais citado
  5. Effect of peritransplant measurable residual disease clearance in patients with myelodysplastic neoplasm: a referral center experience.
    Experimental hematology· 2025· PMID 40355041mais citado
  6. Clinical Outcomes in Patients With Refractory Anemia With Excess Blasts (RAEB) Who Receive Hypomethylating Agents (HMAs).
    Clin Lymphoma Myeloma Leuk· 2024· PMID 37996264recente
  7. Single-unit unrelated cord blood transplantation versus HLA-matched sibling transplantation in adults with advanced myelodysplastic syndrome: A registry-based study from the adult MDS working group of the Japanese society for transplantation and cellular therapy.
    Hematol Oncol· 2024· PMID 37592904recente
  8. Evaluation of in vitro rat and human airway epithelial models for acute inhalation toxicity testing.
    Toxicol Sci· 2023· PMID 37280087recente
  9. The effect of granulocyte-colony stimulating factor, decitabine, and busulfan-cyclophosphamide versus busulfan-cyclophosphamide conditioning on relapse in patients with myelodysplastic syndrome or secondary acute myeloid leukaemia evolving from myelodysplastic syndrome undergoing allogeneic haematopoietic stem-cell transplantation: an open-label, multicentre, randomised, phase 3 trial.
    Lancet Haematol· 2023· PMID 36702138recente
  10. Prospective comparison of 5- and 7-day administration of azacitidine for myelodysplastic syndromes: a JALSG MDS212 trial.
    Int J Hematol· 2022· PMID 35508695recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:86839(Orphanet)
  2. MONDO:0019454(MONDO)
  3. GARD:19070(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q7307573(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

Neoplasia mielodisplásica com excesso de blastos
Compêndio · Raras BR

Neoplasia mielodisplásica com excesso de blastos

ORPHA:86839 · MONDO:0019454
Prevalência
Unknown
Herança
Not applicable
CID-10
D46.2 · Anemia refratária com excesso de blastos
CID-11
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0002894
Wikidata
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