É uma doença do sangue que surge de uma célula-mãe alterada, gerando um grupo de células "iguais" (clonais) e problemáticas. Ela se caracteriza pela produção de células sanguíneas com formato e função anormais (displasia), e por uma formação ineficaz de novas células do sangue em um ou mais tipos (como glóbulos vermelhos, brancos ou plaquetas). Essa alteração nas células pode vir junto com um aumento nas células jovens da medula óssea (chamadas mieloblastos). No entanto, a quantidade dessas células é sempre inferior a 20%. Se fosse igual ou superior a 20%, a Organização Mundial da Saúde (OMS) classificaria a condição como leucemia mieloide aguda. A doença pode surgir espontaneamente (sem uma causa aparente) ou ser resultado da exposição a certos medicamentos (como alguns usados em quimioterapia) e/ou radioterapia.
Introdução
O que você precisa saber de cara
É uma doença do sangue que surge de uma célula-mãe alterada, gerando um grupo de células "iguais" (clonais) e problemáticas. Ela se caracteriza pela produção de células sanguíneas com formato e função anormais (displasia), e por uma formação ineficaz de novas células do sangue em um ou mais tipos (como glóbulos vermelhos, brancos ou plaquetas). Essa alteração nas células pode vir junto com um aumento nas células jovens da medula óssea (chamadas mieloblastos). No entanto, a quantidade dessas células é sempre inferior a 20%. Se fosse igual ou superior a 20%, a Organização Mundial da Saúde (OMS) classificaria a condição como leucemia mieloide aguda. A doença pode surgir espontaneamente (sem uma causa aparente) ou ser resultado da exposição a certos medicamentos (como alguns usados em quimioterapia) e/ou radioterapia.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 89 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
10 genes identificados com associação a esta condição.
Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop
CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'
Nucleus
Immunodeficiency 21
An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T-cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern.
Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal programming of B-cell responses to antigen after the maturation process (By similarity). Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity (PubMed:33086059). Removes 'Lys-63'-linked polyubiquitins from TRAF3 and
NucleusCytoplasm
Bone marrow failure syndrome 4
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive.
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310, PubMed:36104565). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing
NucleusNucleus speckle
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems (PubMed:29925951, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:35714614, PubMed:35835867, PubMed:36087581, PubMed:36989299, PubMed:37327704, PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:37991948, PubMed:38168118, PubMed:38552625). The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G prot
Intellectual developmental disorder, autosomal dominant 42
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth.
Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion
Cytoplasm
Tumoral calcinosis, normophosphatemic, familial
An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.
May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors
Early endosomeMitochondrion
Ataxia-pancytopenia syndrome
An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.
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
Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and c
CytoplasmNucleus, nucleolus
Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a co
Nucleus
Bohring-Opitz syndrome
A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.
Medicamentos aprovados (FDA)
3 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
2,171 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 86 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
93 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 — Síndromes mielodisplásicos
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 6.870
RNF25 confers mRNA damage tolerance by curbing activation of the integrated stress response.
Excessive RNA damage activates cellular stress responses, triggering cell death. However, pathways that negatively regulate RNA damage responses are largely uncharacterized. Using genetic screens, we find that the ubiquitin ligase RNF25 provides tolerance to RNA damage caused by the nucleoside analogue azacytidine, a chemotherapeutic agent used to treat acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Mechanistically, we show that azacytidine is incorporated into mRNA, where it causes lesions that stall elongating ribosomes, leading to cytotoxic activation of the GCN2-dependent integrated stress response (ISR). Furthermore, we establish that RNF25 prevents ISR hyperactivation by ubiquitylation of ribosomal protein eS31, thereby suppressing cell death upon azacytidine treatment. Our study reveals an mRNA damage tolerance mechanism that determines cellular survival in response to azacytidine, highlighting RNA damage-induced stress response as a potentially critical component of chemosensitivity in AML and MDS.
Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
The hematopoietic cell transplant comorbidity index (HCT-CI) is a validated prognostic tool for baseline assessment in allogeneic hematopoietic cell transplantation (HCT). The impact of the individual components of the HCT-CI on prognosis remains unknown for patients undergoing post-transplant cyclophosphamide (PTCY) based graft versus host disease (GVHD) prophylaxis. Data were collected and validated from patients undergoing HCT for myelodysplastic syndrome or acute myeloid leukemia at our center between 2018 and 2022. Multivariable regression analysis was used to identify an optimized subset of HCT-CI; Akaike information index (AIC) was used to assess model fit; C-index was used to evaluate the predictive ability of models. From 586, 184 (31%) received PTCY; HCT-CI comorbidities were balanced between non-PTCY and PTCY- subgroups except for renal, which was only present in 8 patients. Higher HCT-CI was associated with an increased cumulative incidence of NRM in univariable (3-year NRM: 22% (≥ 5) vs 12% (2-4) vs 4.8% (0-1), p=0.0002) and multivariable analysis (subdistribution HR 4.28 for HCT-CI≥ 5, p=0.0003, 2.61 for 2-4, p=0.013). Subset of HCT-CI comorbidities-diabetes, infection, peptic ulcer disease, renal, rheumatologic, and severe pulmonary comorbidities- had a similar impact on NRM as the total score. Diabetes and cardiac comorbidities had a strong association with NRM, and the addition of cardiac comorbidities improved the C-index only in the PTCY subgroup. The HCT-CI retains prognostic significance in the PTCY era, although refinement may be required. Future studies can identify links between cardiac comorbidities and NRM when using PTCY.
Effect of Somatic Variants Post Allogeneic Hematopoietic Cell Transplantation in Acute Myeloid Leukemia and Myelodysplastic Syndrome.
Measurable residual disease (MRD) has established prognostic significance in patients with myeloid disorders; however, there is limited data regarding its prognostic and predictive value and the optimal technique for measurement in the setting of post allogeneic hematopoietic cell transplantation (allo-HCT). A multi-gene next generation sequencing (NGS) panel can overcome the limitations of conventional techniques for measurement of MRD and can shed light onto the longitudinal evolution and genomic complexity of patients undergoing allo-HCT for acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). In this study, patients with AML or MDS who underwent their first allo-HCT and completed NGS testing at day +100 and were in a state of morphological remission were identified from the transplant registry of Mayo Clinic in Florida. The primary aim was to evaluate the prognostic impact of somatic variants detected via NGS at day +100 post allo-HCT on long-term outcomes. In total, 105 patients who underwent allo-HCT for AML and MDS and completed NGS testing on day +100 were included in the study population. Seventeen patients were found to have detectable variants, and 88 patients were without a detectable variant. At a median follow up of 1.4 years (0.1-5.5), presence of any variant at day +100 was associated with inferior 4-year overall survival (OS) (32% vs. 69%, P < 0.001), decreased progression free survival (PFS) (34% vs. 61%, P < 0.001), and a higher incidence of relapse (64% vs. 23%, P < 0.001). In univariate models, a lower Karnofsky performance score and presence of variants post allo-HCT remained significantly associated with inferior OS, higher relapse incidence, and a decreased PFS. The presence of variants at day +100 post allo-HCT remained significant in multivariate models for relapse (P = 0.002) but not for OS (P = 0.06) and PFS (P = 0.08). These results indicate that the presence of detectable somatic variants at day +100 is associated with poor long-term outcomes and are predictive of a higher incidence of relapse.
Aberrant Kupffer-like differentiation of hematopoietic stem cell is critical for the MDS pathogenesis in Setd2-deficient mice.
Histone methyltransferase SETD2 is recurrently mutated in hematopoietic malignancies. Our previous study showed that Setd2 deficiency impairs the self-renewal potential of murine hematopoietic stem cells (HSCs) and drives myelodysplastic syndrome (MDS)-like disorders. However, the precise oncogenic advantages conferred upon HSCs by Setd2 loss remain unclear. In this study, we found that Setd2 deficiency disrupted the fidelity of HSC lineage differentiation with preferential erythroid commitment and excessive macrophage priming, leading to ineffective erythropoiesis and the production of inflammatory embryonic-derived Kupffer cell (EmKC)-like cells. Notably, these EmKC-like cells exhibited HSC-independent self-renewal capability and remotely perturbed intramedullary hematopoiesis by inducing systemic inflammation. Furthermore, macrophage depletion effectively alleviated the inflammatory state and relieved MDS-like symptoms. Mechanistically, Setd2 loss leads to significant changes in DNA methylation and chromatin accessibility, resulting in the activation of Irf8. These findings suggest that the long-lived inflammatory cells may compensate for the HSC self-renewal defects, triggering systemic inflammation and driving hematopoietic malignant transformation. This paradigm provides a new understanding of hematopoietic malignancies with functional defects and exhaustion of HSCs.
Application of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.
Myelodysplastic syndrome (MDS) is a malignant clonal disorder originating from hematopoietic stem and progenitor cells and is characterized by ineffective hematopoiesis and a high propensity for transformation into acute leukemia. Research has indicated that the pathogenesis of MDS is closely linked to genetic mutations and that its progression may encompass multiple stages, including cytogenetic and molecular alterations, leading to the acquisition of oncogenic mutations. The widespread application of next-generation sequencing (NGS) technologies, including whole-genome sequencing, whole-exome sequencing, and RNA sequencing, has significantly improved our understanding of the genetic alterations and transcriptomic modifications underlying MDS. These technologies not only deepen our understanding of molecular mechanisms but also facilitate the identification of potential therapeutic targets and prognostic biomarkers. Consequently, the 2022 World Health Organization Classification and the International Consensus Classification have incorporated molecular features into the MDS classification system, and the Molecular International Prognostic Scoring System (IPSS-M) was introduced. This review aims to summarize the role of NGS in the precise diagnosis, classification, risk assessment, treatment selection, and evaluation of therapeutic effectiveness in MDS, with implications for advancing precision medicine in hematological malignancies.
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📚 EuropePMC6.634 artigos no totalmostrando 199
RNF25 confers mRNA damage tolerance by curbing activation of the integrated stress response.
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Cell death and differentiationAssociation between red cell distribution width to albumin ratio and all-cause mortality in critically ill patients with myelodysplastic syndrome: a retrospective cohort study.
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Annales de biologie cliniqueLarge-Vessel Vasculitis With Autoimmune Myelodysplastic Syndrome: An Uncommon Case of Large-Vessel Vasculitis With Cytopenia That Is Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome (VEXAS) Negative.
CureusSuccessful Treatment of Cutaneous Squamous Cell Carcinoma Complicated by Myelodysplastic Syndrome Using Combined ALA-PDT and Narrow-Margin Excision: A Case Report.
Clinical case reportsSeven-Year Course of Hypoplastic Myelodysplastic Syndrome Unmasked by Secondary and Neurological Syphilis.
Mediterranean journal of hematology and infectious diseasesApplication of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.
Blood science (Baltimore, Md.)Extensive Oral Ulcerations After Stem Cell Transplant.
JAMA oncologyMDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops.
Nucleic acids researchPresumed tumor-infiltrating clonal hematopoiesis unmasking a concomitant systemic mastocytosis with associated myeloid neoplasm in a patient with metastatic melanoma.
Virchows Archiv : an international journal of pathologyMyelodysplastic Syndrome (MDS) With KMT2A::CBL Rapidly Progressed to Acute Myeloid Leukaemia (AML).
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Bone marrow transplantationEffect of RAS Pathway Gene Mutations on Survival in Myelodysplastic Syndrome: A Systematic Review and Meta-Analysis.
Cancer control : journal of the Moffitt Cancer CenterThe role of macrophages and cytokines in the occurrence and development of MDS.
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CureusNonmyeloablative Conditioning Combined with Anti-CD117 Antibody Briquilimab in Older Adults with High-Risk AML and MDS.
BloodInterpretable Machine Learning to Decipher Myelodysplastic Syndrome-Associated Alterations of the Extracellular Matrix by Time-of-Flight Secondary Ion Mass Spectrometry.
Journal of the American Society for Mass SpectrometrySecondary primary malignancies in indolent non-Hodgkin lymphoma patients receiving frontline bendamustine-rituximab.
CancerWhole transcriptome sequencing reveals differences in the pathogenesis of myelodysplastic syndromes and acute myeloid leukemia.
Hematology (Amsterdam, Netherlands)Clinical and etiological profile of anemia in a clinical hematology department of North Africa : A cross-sectional study.
Leukemia research reportsDiagnostic value of repeat deep sampling and cytocentrifugation in disseminated nocardiosis due to Nocardia brasiliensis with intramuscular and prostatic abscesses in a patient with myelodysplastic syndrome.
Journal of infection and chemotherapy : official journal of the Japan Society of ChemotherapyActivity of Ponatinib and Vitamin K2 Against Myelodysplastic Syndrome and Acute Myeloid Leukemia Cells.
Anticancer researchMDM4 HAPLOINSUFFICIENCY LEADS TO P53-MEDIATED BONE MARROW FAILURE.
BloodClinical Presentation, Risk Factors and Outcome of Non-Tuberculous Mycobacteria Infection in Hematopoietic Stem-Cell Transplantation: A Multinational Case-Control Study.
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British journal of haematologyEffectiveness of azacytidine for poly ADP-ribose polymerase inhibitor-induced myelodysplastic syndrome in ovarian cancer patient: a twofold triumph.
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Pediatrics international : official journal of the Japan Pediatric Society[Haploidentical hematopoietic stem cell transplantation for advanced myelodysplastic syndrome patients with recurrent genetic abnormalities].
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Annals of hematologyFatal Ultra-Early-Onset Rhino-Cerebral Mucormycosis Caused by Rhizomucor miehei Following Umbilical Cord Blood Transplantation and Review of Published Literature.
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Frontiers in medicineImmunophenotypic abnormality quantification refines multiparameter flow cytometry-based measurable residual disease testing in adults allografted for acute myeloid leukemia in morphologic remission.
HemaSphereDiffusion-Weighted Magnetic Resonance Imaging and Apparent Diffusion Coefficient Mapping Detect Kidney Infiltration in Acute Myeloid Leukemia: A Case Report.
Kidney medicineCase series: rhabdomyolysis in patients taking isocitrate dehydrogenase inhibitors for myelodysplastic syndrome and relapsed/refractory acute myeloid leukemia.
Leukemia & lymphomaVEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.
Seminars in arthritis and rheumatismSevere Congenital Neutropenia With Negative Whole-Exome Sequencing Managed With Hematopoietic Stem Cell Transplantation: A Case Report.
CureusMyelodysplastic syndrome with cryptic 5q deletions in young male patients showing sustained response to lenalidomide.
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CancersMarrow Microenvironmental Pathobiology and Therapeutic Opportunities for TP53-Mutated Myelodysplastic Syndrome/Acute Myeloid Leukemia.
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CancersSubsequent Neoplasms After Umbilical Cord Blood Transplantation in the Japanese and European Populations.
Transplantation and cellular therapyDiagnostic pitfalls of ESA-resistant anemia due to functional copper deficiency in a dialysis patient: a myelodysplastic syndrome mimic.
CEN case reportsSuccessful Treatment of Refractory Sweet's Syndrome With Adalimumab in a Myelodysplastic Syndrome Patient.
EJHaemIncidence of hematologic malignancies and mortality associated with GLP-1 receptor agonist and SGLT2 inhibitor use in type 2 diabetes mellitus: results of a retrospective cohort study of electronic health records.
EClinicalMedicinePassenger Lymphocyte Syndrome in Pediatric Lung Transplantation: A Recipient With Previous Hematopoietic Stem Cell Transplantation.
Pediatric transplantationIn vivo CRISPR screening identifies SAGA complex members as key regulators of hematopoiesis.
Nature communicationsNovel Genomic Biomarkers Improve Post-Hematopoietic Cell Transplantation Relapse Risk Stratification for Patients With Myelodysplastic Syndromes.
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Acta haematologicaIntensification of Treosulfan-Fludarabine Conditioning With Thiotepa Exhibited Effectiveness and Tolerability in Older or Comorbid Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplant With Active Myeloid Neoplasm: A Real-world Study.
Transplantation directSynergistic apoptosis induction in myelodysplastic syndrome cells by azacitidine and PIM-2 inhibitors via nuclear factor-kappa B pathway inhibition.
BMC cancerPrediction of myeloid malignant cells in Fanconi anemia using machine learning.
PloS oneCancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant.
Respiratory researchAutoimmune HLA alleles and neoantigens predict myelodysplastic syndrome outcomes after allogeneic HSCT: A CIBMTR analysis.
iScienceImpact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study.
American journal of hematologyA case of paraneoplastic unilateral leg swelling in myelodysplastic syndrome preceding transformation to acute myeloid leukemia and responding to IL-1 inhibition.
The American journal of medicineSuccessful treatment of probable disseminated mucormycosis using liposomal amphotericin B and isavuconazole in myelodysplastic syndrome: A case report and literature review.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesAnemia Contributes to, But Does Not Explain, Cardiovascular Disease Risk Enhancement in Patients With Myelodysplastic Syndrome.
The Canadian journal of cardiologyFBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.
The Journal of clinical investigationSustained response to minimal-dose tagraxofusp in a patient with BPDCN and advanced chronic kidney disease.
Annals of hematologyPodocytic Infolding Gromerulopathy Developed at the Time of Transition from Chronic Myelogenous Leukemia to Myelodysplastic Syndrome: A Case Report.
Internal medicine (Tokyo, Japan)A Rare Manifestation of Cardiac Myeloid Sarcoma.
JACC. Case reportsAcyclovir-Resistant Herpes Simplex Virus in Pediatric Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplant: A Case Series.
Transplant infectious disease : an official journal of the Transplantation SocietyMore than CLK bait? Rogocekib for MDS and AML.
Blood advances[Treatment goals for low-risk myelodysplastic syndromes].
[Rinsho ketsueki] The Japanese journal of clinical hematologyBehçet-like intestinal disease in a patient with trisomy 8-associated myelodysplastic syndrome (TRIAD).
BMJ case reportsA Yeast-Based High-Throughput Screening Platform for the Discovery of Novel pre-mRNA Splicing Modulators.
ACS chemical biologyFebrile Neutropenia in the Context of Clozapine-Induced Agranulocytosis (CIA) and Myelodysplastic Syndrome: Importance of a Multidisciplinary Approach.
CureusMyelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review.
Case reports in gastrointestinal medicineDiagnostic and Prognostic Significance of miR-155, miR-181, miR-221, miR-222, and miR-223 Expression in Myelodysplastic Syndromes and Acute Myeloid Leukemia.
Diagnostics (Basel, Switzerland)Impact of thrombosis and bleeding on survival of older people with myelodysplastic syndromes: a population analysis.
Journal of thrombosis and haemostasis : JTHMeasurable residual disease-guided combination of ibrutinib plus venetoclax versus FCR in previously untreated patients with intermediate-risk chronic lymphocytic leukaemia: a phase 2, randomised trial (ERADIC) from the FILO group.
EClinicalMedicine[The Effect of Serum Ferritin before Transplantation on Implantation in MDS and AML Patients after Unrelated Cord Blood Transplantation].
Zhongguo shi yan xue ye xue za zhi[The Role of MiR-709 in Erythroid Development and Its Correlation with Multiple Hematological Diseases].
Zhongguo shi yan xue ye xue za zhi[Correlation between ASXL1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodysplastic Syndrome].
Zhongguo shi yan xue ye xue za zhiHematologic Landscape of Adult Patients With Diamond-Blackfan Anemia Syndrome.
American journal of hematologyThe Nicotinamide Salvage Pathway is a Metabolic Vulnerability of High-Risk MDS Stem Cells.
bioRxiv : the preprint server for biologyIbrutinib alternating with three cycles of interval fludarabine, cyclophosphamide, and rituximab (FCR) in adults with untreated chronic lymphocytic leukaemia as time-limited regimen: a single-arm, multicentre phase 2 trial in China.
EClinicalMedicineNavigating prognostic stratification and approach to TP53 -mutated myeloid neoplasms.
Current opinion in hematologyOral Squamous Cell Carcinoma in a Patient with Myelodysplastic Syndrome: Report of a Case and Literature Review.
Frontiers in dentistryHetrombopag Added to Cyclosporine as the First-Line Treatment for Patients With Non-Severe Aplastic Anemia: A Phase 2 Multicenter Trial.
American journal of hematologyPhase II study of the triple combination of rabbit ATG, ciclosporin and eltrombopag in patients with transfusion-dependent aplastic anaemia: West Japan Hematology Study Group (W-JHS) AA02 trial.
British journal of haematologyMDSC subpopulation dynamics predict disease evolution: a multidimensional biomarker framework for risk assessment in MDS.
Clinical and experimental medicineA Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report.
The American journal of case reportsPeriprosthetic Solitary Fibrous Tumor of the Proximal Femur: A Case Report.
JBJS case connectorSpontaneous Resolution of Unexplained Neutropenia in Primary Hyperparathyroidism: A Case Report.
CureusIsavuconazole for the Treatment of Invasive Fungal Disease in Hematology Patients: A Real-World Retrospective Study on Efficacy and Safety.
MicroorganismsClinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome.
BiomedicinesCytogenetic Abnormalities in Pediatric Myelodysplastic Syndrome: Insights on the Disease Biology and Impact on Leukemic Evolution.
BiomedicinesRUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.
Frontiers in medicinePolychondritis revealing the acutisation of myelodysplasia into acute myeloid leukaemia in a 36-year-old woman: A case report.
Joint bone spineCongenital Myelodysplastic Syndrome in a Newborn With Germline JAK2 Variant Treated With Liposomal Cytarabine-Daunorubicin and Allogeneic Hematopoietic Stem Cell Transplant.
Pediatric blood & cancer[Outcome of clinical follow-up of maternal malignant tumors indicated by abnormal NIPT signals].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.
Biochimica et biophysica acta. Reviews on cancerInquiry Regarding the Impact of Anemia Adjustment on Cardiovascular Disease Risk in Patients With Myelodysplastic Syndrome.
The Canadian journal of cardiologyPolycomb repressive complexes as therapeutic targets in hematologic malignancies.
Experimental hematologyA Case Series of SGLT2i Improving Hemoglobin in Adults with Myelodysplastic Syndrome.
Acta haematologicaA proposal for expedited stem cell transplantation for TP53-mutant myelodysplastic neoplasms and acute myeloid leukemia.
Blood advancesReview of flow cytometry findings and associated scoring approaches for identifying myelodysplastic syndrome and the future role of machine learning in improving the diagnostic algorithm.
American journal of clinical pathologyClinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region.
Hematology reportsTreatment of Relapsed/Refractory t(11;14) Multiple Myeloma and High-Risk Myelodysplastic Syndrome With Venetoclax.
Case reports in hematologyDonor age and type in allogeneic haematopoietic stem cell transplantation: Strong effect in MDS, limited in AML.
British journal of haematologyIsolated KRAS and NRAS mutations in adults with monocytosis and/or cytopenia(s).
HaematologicaA novel GATA1 variant linking germline and somatic myelodysplastic syndrome in two patients.
HaematologicaThe effects of adding decitabine to conditioning regimen for patients with acute myeloid leukemia or myelodysplastic syndrome undergoing allogeneic hematopoietic stem cell transplantation: a systematic review and meta-analysis.
Annals of hematologyImpact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive OncologyMinoxidil ameliorates myelodysplastic syndrome by targeting Wnt4 while sparing normal hematopoiesis.
Cell communication and signaling : CCSDynamic and extensive A-to-I RNA recoding in immunoglobulin shapes myeloid neoplasm transcriptome.
The Journal of biological chemistryMolecular Characterization of <italic>MECOM</italic> Rearrangements in Two Cases with Myelodysplastic Syndrome and t(2;3)(p23;q26.2).
Cytogenetic and genome researchShared donor-recipient γδ T-cell phenotypic and repertoire features associate with cytomegalovirus reactivation after allogeneic haematopoietic stem cell transplantation.
Clinical & translational immunologyCyclosporine A improves survival in lower-risk hypoplastic myelodysplastic syndromes: a single-center retrospective study from China.
Hematology (Amsterdam, Netherlands)VEXAS syndrome in rheumatology practice: features from a multicenter cohort in north-east Italy.
Frontiers in immunologyA multicenter, prospective, non-interventional drug intensive monitoring study of olaparib in a large real-world Chinese patient cohort with ovarian cancer (DIM-OC).
Journal of ovarian researchImmature platelet fraction and bone marrow findings in hematology.
Scientific reports[Impact of donor characteristics on prognosis for myelodysplastic syndromes after haplo-identical transplantation: a retrospective study].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi[Myelodysplastic neoplasms with acute myeloid leukemia-like mutations: clinical features, molecular profiles, and prognosis].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiSF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
PloS oneMyelodysplastic/Myeloproliferative Neoplasm in a Dog: A Case Report.
Veterinary medicine and scienceAsymptomatic Nasopharyngeal Myeloid Sarcoma Presenting With Cervical Lymphadenopathy: A Case Report.
Ear, nose, & throat journal[VEXAS syndrome mimicking relapsing polychondritis: A case report].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesTriptolide combined with arsenic trioxide induces apoptosis of myelodysplastic syndrome cells by inhibiting the NF-κB signaling pathway.
MedicineHigher HLA-DRB1 Evolutionary Divergence Is Associated with Reduced Relapse and Improved Survival after Matched Unrelated Hematopoietic Cell Transplantation.
Transplantation and cellular therapyOne train can hide another one, a case of myelodysplastic syndrome (MDS) and splenic diffuse red pulp small B cell lymphoma (SDRPL).
Annales de biologie cliniqueTherapy related myelodysplastic syndrome: a hematologic sequela of low dose methotrexate in rheumatoid arthritis.
Oxford medical case reportsA Massive Haemothorax Due to Pleural Extramedullary Haematopoiesis in a Patient With Myelodysplastic Syndrome/Myeloproliferative Neoplasm.
CureusSafety and effectiveness of the combination of 5-azacitidine and ruxolitinib in VEXAS syndrome: A single-centre experience.
British journal of haematologyRibosomal protein control of hematopoietic stem cell transformation through regulation of metabolism.
Cell reportsTelomere length as a prognostic biomarker in myelodysplastic syndrome treated with hypomethylating agents.
Leukemia & lymphomaOrca-T vs allogeneic hematopoietic stem cell transplantation (Precision-T): a multicenter, randomized phase 3 trial.
BloodThe impact of the number and the size of clusters on prediction performance of the stratified and the conditional shared gamma frailty Cox proportional hazards models.
medRxiv : the preprint server for health sciencesFDA approval of imetelstat: a new era in the treatment of lower-risk myelodysplastic syndrome.
Annals of medicine and surgery (2012)Remimazolam-Based Anesthetic Management in a Patient with Severe Aortic Stenosis and Myelodysplastic Syndrome-Related Thrombocytopenia: A Case Report.
Journal of clinical medicineDroplet Digital PCR Outperforms Conventional Methods for Early Relapse Prediction in Acute Myeloid Leukemia/Myelodysplastic Syndrome Patients Post-Transplantation.
Transplantation and cellular therapySynergy in Immunostimulatory and Pro-Differentiation Effects of Vitamin D Analog and Fludarabine in Acute Myeloid Leukemias.
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Blood cell therapyPreparing for allogeneic hematopoietic stem cell transplant: a multidisciplinary prehabilitation intervention is safe, feasible and demonstrates preliminary efficacy in acute myeloid leukemia and myelodysplastic syndromes.
BMC cancerIntegrative Multi-Omics Analysis Unveils the Molecular Mechanisms by Which TP53 Mutation Influence Early Decitabine Resistance in Myelodysplastic Syndrome.
Journal of cellular biochemistryAcute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis-associated aplastic anemia.
Journal of pediatric gastroenterology and nutrition[Allogeneic hematopoietic stem cell transplantation with high-dose melphalan and total body irradiation for hematological malignancies: a single-center retrospective analysis].
[Rinsho ketsueki] The Japanese journal of clinical hematologyPost Hematopoietic Cell Transplantation Maintenance Therapy With Low-Dose Azacitidine in a Pediatric Population With High-Risk Myeloid Malignancies.
Transplantation and cellular therapyOutcomes of fludarabine-melphalan versus fludarabine-busulfan reduced-intensity conditioning regimens for allogeneic hematopoietic stem cell transplantation in patients with hematologic malignancies: A systematic review and meta-analysis.
CancerReal-world incidence and risk of myelodysplastic syndrome and acute myeloid leukemia secondary to PARP inhibitors in ovarian cancer.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoVenetoclax/FluBu2 RIC transplant followed by all-oral venetoclax/decitabine maintenance for poor-risk MDS/AML.
Blood advancesUpdates in low/intermediate-risk MDS.
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TransfusionCollapsing Glomerulopathy in a Patient With Myelodysplastic Syndrome With Isolated del(5q): A Case Report.
Kidney medicineIndividualized Treosulfan-Based Conditioning Improves Outcomes of Allogeneic Hematopoietic Transplantation for Myelodysplastic Syndrome: A 25-Year Retrospective, Population-Based Analysis.
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Hematology (Amsterdam, Netherlands)Chromatin accessibility in stem cells unveils progressive transcriptional alterations in myelodysplastic syndrome.
Nature communicationsAssociações
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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.
- RNF25 confers mRNA damage tolerance by curbing activation of the integrated stress response.
- Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
- Effect of Somatic Variants Post Allogeneic Hematopoietic Cell Transplantation in Acute Myeloid Leukemia and Myelodysplastic Syndrome.
- Aberrant Kupffer-like differentiation of hematopoietic stem cell is critical for the MDS pathogenesis in Setd2-deficient mice.
- Application of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.
- Health-related quality of life of patients with acute myeloid leukemia and myelodysplastic syndromes/neoplasms treated with decitabine: a systematic literature review.
- Concurrent SF3B1 Mutation and BCR::ABL1 Demonstrating a Myelodysplastic Syndrome Phenotype: A Case Report.
- Behçet's syndrome-like features revealing myelodysplastic syndrome with TP53 mutation: a case report.
- Disparities in blood cancer survival in the UK 2009-2019: national cohort studies.
- Luspatercept: From Bench to Bedside and Beyond in the Management of Ineffective Erythropoiesis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:52688(Orphanet)
- OMIM OMIM:614286(OMIM)
- MONDO:0018881(MONDO)
- GARD:7132(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q954625(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
