| Update on cytogenetic and molecular changes in myelodysplastic syndromes (MDS). | |
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MedLine Citation:
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PMID: 21877899 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis and a high propensity to transform to acute myeloid leukemia (AML). In the pathogenesis of the disease, both gene mutations and cytogenetic changes play an important role. The latter have been integrated into prognostic scoring systems including the IPSS (International Prognostic Scoring System) and WPSS (WHO classification-based Prognostic Scoring System). In these systems and in multivariate analyses comparing clinical and genetic data, complex karyotypes are associated with a particularly poor prognosis. Del(5q) plays a distinct role by classifying the only genetically defined WHO subtype. Also, due to advancement in technology such as whole genome sequencing, the number of known mutations occurring in MDS is steadily increasing. Important recent discoveries include mutations in EZH2, DNMT3A, ASXL1, and IDH1/2. Like TET2, the most commonly mutated gene in MDS, all are involved in epigenetic regulation. Mutations like ASXL1, RUNX1, EZH2, ETV6/TEL, and TP53 have an adverse impact on patient overall survival. Early evidence suggests that some mutations might influence treatment response, necessitating reassessment of the prognostic effect of genetic alterations in the light of every new treatment. This review discusses clinical and biological effects of the most common cytogenetic and molecular aberrations in MDS patients. |
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Authors:
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Brigitte Schlegelberger; Gudrun Göhring; Felicitas Thol; Michael Heuser |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-30 |
Journal Detail:
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Title: Leukemia & lymphoma Volume: - ISSN: 1029-2403 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9007422 Medline TA: Leuk Lymphoma Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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