IDH1 Mutation Is an Independent Inferior Prognostic Indicator for Patients with Myelodysplastic Syndromes

Background: Genomic sequencing technologies have identified isocitrate dehydrogenase (IDH) mutations in haematological malignancies. The prognostic implications of somaticIDH mutation (mIDH) in myelodysplastic syndromes (MDS) remain controversial.Methods: Mutations inIDH1 andIDH2were detected using genomic sequencing technologies in 97 patients with MDS.Results: Seven (7.2%) mutations were identified: 3 inIDH1 (all R132C) and 4 inIDH2 (3 R140Q and 1 R140L). The frequency of mutation was 16.6% (2/12) in refractory anaemia with excess blasts (RAEB)-1 and 14.7% (5/34) in RAEB-2.IDH1/2 mutations were closely associated with higher bone marrow blast counts (median 10.0 vs. 2.3%;p = 0.019) and lower absolute neutrophil counts (median 0.44 × 109/L vs. 1.21 × 109/L; p = 0.027). AllIDH mutations were mutually exclusive and heterozygous.IDH mutations were not significantly correlated with any specific karyotype. Patients withIDH1 mutations exhibited shorter overall and progression-free survival (OS and PFS;p = 0.039 andp = 0.042, respectively), whereasIDH2 mutations did not affect OS or PFS (p = 0.560 andp = 0.218, respectively). Multivariate analysis indicated thatIDH1 mutation (p = 0.018; hazard ratio [HR] 4.735; 95% confidence interval [CI] 1.299-17.264), karyotype risk (p = 0.036; HR 1.619; 95% CI 1.033-2.539) and the revised International Prognostic Scoring System risk category (p
Source: Acta Haematologica - Category: Hematology Source Type: research

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Publication date: Available online 23 May 2018 Source:Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology Author(s): Tomoya Soma, Seiji Asoda, Ryotaro Iwasaki, Hidetaka Miyashita, Mariko Inoue, Yuka Yamada, Kimio Uchiyama, Taneaki Nakagawa, Hiromasa Kawana Myelodysplastic syndrome is an acquired hematopoietic disorder showing symptoms of pre-leukemia and refractory anemia. In the tooth extraction process of such cases, bleeding tendency due to pancytopenia, infection etc., becomes a problem. As such, a cautious approach is required. We have confirmed platelet transfusion refractoriness prior to tooth extrac...
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - Category: ENT & OMF Source Type: research
Authors: Senjo H, Higuchi T, Morimoto M, Koyamada R, Yanaoka C, Okada S Abstract An 81-year-old Japanese man presented with constitutional symptoms and anemia and was diagnosed with giant cell arteritis (GCA) and myelodysplastic syndrome (MDS) simultaneously. His symptoms and anemia improved promptly with steroids; however, the MDS rapidly progressed to overt leukemia. While MDS patients are at an increased risk of autoimmune diseases, an association with GCA has rarely been reported. This case illustrates the importance of considering GCA as a cause of anemia in elderly patients if MDS is already diagnosed, even i...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Cardiac surgery for myelodysplastic syndrome (MDS) patients is challenging because anemia and neutropenia develop as a result of the syndrome, leading to infection and bleeding tendency during surgery. We repo...
Source: Journal of Cardiothoracic Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Case report Source Type: research
British Journal of Haematology, EarlyView.
Source: British Journal of Haematology - Category: Hematology Authors: Source Type: research
American Journal of Hematology, EarlyView.
Source: American Journal of Hematology - Category: Hematology Authors: Source Type: research
CONCLUSION: A high prevalence of iron overload in this patient population in Latin American countries indicates that a better diagnosis and management of iron overload is required in these countries. PMID: 29663858 [PubMed - as supplied by publisher]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
AbstractThe myelodysplastic syndromes (MDSs) are clonal hematopoietic stem cell disorders. The International Prognostic Score System (IPSS) groups MDS in lower-risk (IPSS low and intermediate-1) and higher-risk disease (IPSS intermediate-2 and high). AML transformation is the main concern in higher-risk MDS, while anemia and transfusion dependency represent the major issues for low-risk MDS patients. Improving erythropoiesis, and eliminating fatigue and symptoms, is the main therapeutic goal for low-risk MDS patients. Around 50% of MDS patients present with anemia with an Hb level
Source: Medical Oncology - Category: Cancer & Oncology Source Type: research
We examined the possible diagnostic and prognostic values of exosomal microRNAs in two human bone marrow failure diseases, aplastic anemia and myelodysplastic syndromes. After screening of 372 microRNAs in a discovery set (n=42) of plasma exosome samples, we constructed a custom microRNA PCR plate, including 42 microRNAs, for validation in a larger cohort (n=99), and we identified 25 differentially expressed exosomal microRNAs uniquely or frequently present in aplastic anemia and/or myelodysplastic syndromes. These microRNAs could be related to intracellular functions, such as metabolism, cell survival, and proliferation. ...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies.
Source: Leukemia Research Reports - Category: Hematology Source Type: research
Rationale: The current therapy for elderly patients with high-risk myelodysplastic syndromes (MDSs) remains unsatisfactory. Decitabine, which has been approved to treat MDS, cannot eliminate malignant clones of MDS. Patient concerns: A 68-year-old woman presented with multiple divergent bleeding points in the subcutaneous tissue of the limb. Two years earlier, she had been diagnosed with invasive ductal carcinoma of the left breast and had undergone left modified radical mastectomy and local radiation therapy. Diagnoses: The patient was diagnosed with MDS refractory anemia with excess of blast II and was classified...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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