Co‐mutation landscape and clinical significance of RAS pathway related gene mutations in patients with myelodysplastic syndrome
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DOI: 10.1002/hon.3099
Abstract: Single gene mutations in the RAS pathway are uncommon and of unknown significance in myelodysplastic syndrome (MDS) patients, RAS pathway‐related gene mutations (RASwaymut) as a whole may be significant and require further elucidation. The clinical… read more here.
Keywords: gene mutations; ras pathway; pathway related; mds patients ... See more keywords
Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Hematology"
DOI: 10.1007/s00277-020-04360-4
Abstract: SF3B1 is a highly mutated gene in myelodysplastic syndrome (MDS) patients, related to a specific subtype and parameters of good prognosis in MDS without excess blasts. More than 40% of MDS patients carry at least… read more here.
Keywords: biological prognostic; clinical biological; mds patients; mds ... See more keywords
Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
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DOI: 10.1007/s00277-021-04550-8
Abstract: Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than 50% of low-risk MDS patients harbor a normal karyotype. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged… read more here.
Keywords: undetectable karyotype; karyotype; normal karyotype; multiplex ligation ... See more keywords
A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts.
Sign Up to like & getrecommendations! Published in 2017 at "Leukemia research"
DOI: 10.1016/j.leukres.2017.01.031
Abstract: Our study aimed to analyze the presence of mutations in SF3B1 and other spliceosome-related genes in myelodysplastic syndromes with ringed sideroblasts (MDS-RS) by combining conventional Sanger and next-generation sequencing (NGS) methods, and to determine the… read more here.
Keywords: spliceosome related; step; ringed sideroblasts; related genes ... See more keywords
Comparison of clinical outcomes and prognostic utility of risk stratification tools in patients with therapy-related vs de novo myelodysplastic syndromes: a report on behalf of the MDS Clinical Research Consortium
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DOI: 10.1038/leu.2017.33
Abstract: While therapy-related (t)-myelodysplastic syndromes (MDS) have worse outcomes than de novo MDS (d-MDS), some t-MDS patients have an indolent course. Most MDS prognostic models excluded t-MDS patients during development. The performances of the International Prognostic… read more here.
Keywords: myelodysplastic syndromes; risk; therapy related; clinical outcomes ... See more keywords
SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes
Sign Up to like & getrecommendations! Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2111703119
Abstract: Significance Myelodysplastic syndromes (MDS) are the most commonly diagnosed malignancy of the elderly in the United States, but what causes severe anemia in MDS has been unknown. Our findings provide a detailed mechanism underlying the… read more here.
Keywords: differentiation; sf3b1 mutant; mds patients; map3k7 ... See more keywords
Combining metaphase cytogenetics with single nucleotide polymorphism arrays can improve the diagnostic yield and identify prognosis more precisely in myelodysplastic syndromes
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DOI: 10.1080/07853890.2022.2125173
Abstract: Abstract Background Myelodysplastic syndromes (MDS) encompass a group of heterogeneous haematopoietic stem cell malignancies characterised by ineffective haematopoiesis, cytological aberrations, and a propensity for progression to acute myeloid leukaemia. Diagnosis and disease prognostic stratification are… read more here.
Keywords: mds; prognosis; improve diagnostic; diagnostic yield ... See more keywords
Analysis of the influencing factors related to liver and cardiac iron overload in MDS patients detected by MRI in the real world.
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DOI: 10.1080/16078454.2020.1866791
Abstract: OBJECTIVES We aim to explore and analyze the related influencing factors of liver and cardiac iron overload in MDS patients detected by magnetic resonance imaging (MRI). METHODS We have detected cardiac T2* and liver T2*… read more here.
Keywords: mds patients; influencing factors; iron overload; liver cardiac ... See more keywords
Expression and clinical significance of RAG1 in myelodysplastic syndromes
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DOI: 10.1080/16078454.2022.2127462
Abstract: Objective To determine the expression level of RAG1 and its clinical significance in myelodysplastic syndromes (MDS). Methods To explore the candidate genes, the microarray datasets GSE19429, GSE58831, and GSE2779 were downloaded from the Gene Expression… read more here.
Keywords: clinical significance; myelodysplastic syndromes; expression; rag1 ... See more keywords
Clinical significance of prognostic nutritional index in myelodysplastic syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Hematology"
DOI: 10.1080/16078454.2022.2161209
Abstract: BACKGROUND Prognostic nutritional index has been found to be related to the clinical outcomes of patients with cancer. However, its role in myelodysplastic syndromes (MDS) patients is unclear. We aimed to assess the value of… read more here.
Keywords: index; clinical significance; prognostic nutritional; nutritional index ... See more keywords
Red blood cell transfusion burden in myelodysplastic syndromes (MDS) with ring Sideroblasts (RS): A retrospective multicenter study by the Groupe Francophone des Myélodysplasies (GFM).
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DOI: 10.1111/trf.16884
Abstract: BACKGROUND MDS-RS patients are characterized by chronic anemia and a low risk of Acute Myeloid Leukemia (AML) progression and they generally become Red Blood Cell (RBC) transfusion dependent (TD). STUDY DESIGN AND METHODS We performed… read more here.
Keywords: transfusion burden; transfusion; mds patients; study ... See more keywords