Mutations and prognosis in myelodysplastic syndromes: Karyotype ‐adjusted analysis of targeted sequencing in 300 consecutive cases and development of a genetic risk model

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Source: American Journal of Hematology - Category: Hematology Authors: Tags: Research Article Source Type: research

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We report a case of myeloid sarcoma that developed in the primary tumor lymphatic drainage field of a previously treated intermediate-thickness cutaneous melanoma, clinically and radiographically mimicking an in-transit metastasis, in a patient with myelodysplastic syndrome. The diagnosis of myeloid sarcoma was achieved after surgical excision of the mass and pathological examination that included extensive immunohistochemical studies. Awareness of such an unusual clinical presentation can help reduce diagnostic delay and ensure that adequate tissue is obtained for pathological examination and ancillary studies that are cr...
Source: The American Journal of Dermatopathology - Category: Pathology Tags: Brief Report Source Type: research
CONCLUSION: Besides screening for clonal lymphocytes, plasma cells and blasts, an LST supplemented with CD34 allows the calculation of the Ogata score as an adjuvant tool in the diagnostic workup of cytopenic patients suspected of MDS. PMID: 30334700 [PubMed - as supplied by publisher]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
Authors: Sachiyo O, Masahiro T, Tsutomu T, Makoto I, Yutaka H, Nobumasa M, Takamichi K, Nozomi O, Shinpei M, Kazuhiro T, Yusuke K, Masanori O, Yusuke K, Yasuhisa H, Kazuo H, Yasumasa N Abstract Fanconi anemia (FA) is a disorder of chromosomal fragility characterized by progression to aplastic anemia, myelodysplastic syndrome, and leukemia. FA patients are also predisposed to solid cancers. A case of FA in an adult patient who developed tongue and superficial esophageal cancers following hematopoietic stem cell transplantation is reported. This case was considered significant because it is the first reported case of...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Oster HS, Svorai-Litvak S, Kirgner I, Kolomansky A, Siegel RS, Mittelman M Abstract BACKGROUND: With advances in myelodysplastic syndromes (MDS), patient cohorts from different time periods might be different. OBJECTIVES: To compare presentation and outcomes between two cohorts. METHODS: Data were collected from George Washington University Medical Center, Washington, DC, USA 1986-1987 (DC), and Tel Aviv Medical Center, Israel 1999-2009 (TA). RESULTS: The study comprised 227 patients (139 TA, 88 DC). TA patients were older (75.4 ± 9.8 vs. 63.8 ± 14.3 years, P
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
Cytometry Part B: Clinical Cytometry, EarlyView.
Source: Cytometry Part B: Clinical Cytometry - Category: Molecular Biology Authors: Source Type: research
Myelodysplastic syndromes (MDS) can be difficult to diagnose, especially when morphological changes in blood and marrow cells are minimal, myeloblast proportion is not increased, and the karyotype is normal. The discovery of>40 genes that are recurrently somatically mutated in MDS patients raised hope that molecular genetic testing for these mutations might help clarify the diagnosis in ambiguous cases where patients present with cytopenias and nondiagnostic marrow morphological findings. However, many older healthy individuals also harbor somatic mutations in leukemia-associated driver genes, especially in DNMT3A, TET2...
Source: Blood - Category: Hematology Authors: Tags: How I Treat, Free Research Articles, Myeloid Neoplasia, Clinical Trials and Observations Source Type: research
Journal of Cellular Biochemistry, EarlyView.
Source: Journal of Cellular Biochemistry - Category: Biochemistry Authors: Source Type: research
AbstractPurpose of ReviewThis review provides a comprehensive update of myelodysplastic syndromes (MDS) and their diagnostic criteria, with emphasis on novel concepts and state-of-the-art laboratory workup, including multiparameter/multicolor flow cytometry, chromosome analysis, and mutation profiling.Recent FindingsRecent advances in genetics and molecular technologies have provided unprecedented insights into the pathogenic mechanisms and genomic landscape of MDS and its precursor lesions. This has resulted in revised diagnostic criteria in the World Health Organization (WHO) classification and proposed new terminology f...
Source: Current Hematologic Malignancy Reports - Category: Hematology Source Type: research
Conclusion: The "Clo-Baltimore regimen" is safe and feasible and provides good survivals for patients with myeloid malignancies and haplo-donors. Methods: Here, we report a variant of the Baltimore regimen, where 1) fludarabine was replaced by clofarabine, 2) bone marrow was replaced by peripheral blood stem cells, and 3) tacrolimus was replaced by cyclosporine, in a "Clo-Baltimore regimen". PMID: 30323896 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Disease relapse after allogeneic hematopoietic cell transplant (allo-HCT) remains the most common cause of mortality for patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) (1). Assessment and monitoring of minimal residual disease (MRD) in these patients is often challenging because of heterogeneity of malignant clones, and the absence of well-standardized MRD assays. Chimerism analysis by the characterization of short tandem repeat (STR) markers in subpopulations of peripheral blood (PB) cells is currently widely used to monitor engraftment status and disease relapse after allo-HCT.
Source: Leukemia Research - Category: Hematology Authors: Source Type: research
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