| Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency. | |
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MedLine Citation:
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PMID: 21880633 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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In addition to the recent expert review on familial MDS by Elaine Liew and Carolyn Owen that is partially focused on familial platelet disorder with propensity to myeloid malignancies (FPDMM) due to germline RUNX1 mutations or syndromic microdeletions in 21q22, we report here on a novel case of non-syndromic thrombocytopenia due to a de novo microdeletion in 21q22. We present the case to further highlight the clinical diversity of FPDMM and to discuss the challenges of the clinical management of diseased individuals. Regarding the increased awareness of individuals with germline RUNX1 deficiency, as well as the recent report on the clinical impact of RUNX1 mutations in MDS, efforts for the development of broadly accepted surveillance programs and clinical management guidelines for FPDMM are urgently needed to translate the increased awareness of this disease into clinical utility for the affected individuals and their families. |
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Authors:
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Tim Ripperger; Marcel Tauscher; Detlef Haase; Frank Griesinger; Brigitte Schlegelberger; Doris Steinemann |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-31 |
Journal Detail:
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Title: Haematologica Volume: - ISSN: 1592-8721 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-9-1 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0417435 Medline TA: Haematologica Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Germany; |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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