| Familial myelodysplastic syndromes - a review of the literature. | |
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MedLine Citation:
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PMID: 21606161 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general. The best-characterized familial myelodysplastic syndrome is that of familial platelet disorder with propensity to myeloid malignancy (FPD/AML), caused by heterozygous germline RUNX1 mutations. Recently, there has been an increase in the number of reported cases, allowing for better understanding of the incidence, clinical features, and pathogenesis of this disorder. These recent cases have highlighted the clinical variability of the disorder and confirmed that many patients lack a bleeding and/or thrombocytopenia history. Additionally, several cases of T-acute lymphoblastic leukemia have now been reported, confirming a risk of lymphoid leukemia in patients with inherited RUNX1 mutations. Furthermore, an increased awareness by clinicians has helped detect a number of additional families affected by inherited myelodysplastic syndromes, resulting in the identification of novel causative mechanisms of disease, such as RUNX1 deficiency resulting from constitutional microdeletions of 21q22 and myelodysplasia-associated with telomerase deficiency. Awareness of predisposition to myelodysplastic syndromes and acute myeloid leukemia in families may be of critical importance in the management of younger patients with myelodysplasia in whom allogeneic hematopoietic stem cell transplantation is considered. Such families should be investigated for inherited deficiencies of RUNX1 and/or telomerase to prevent the use of an affected sibling as a donor for transplantation. Herein, we provide an update on Familial Platelet Disorder in addition to a review of other known familial myelodysplastic syndromes. |
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Authors:
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Elena Liew; Carolyn J Owen |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-23 |
Journal Detail:
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Title: Haematologica Volume: - ISSN: 1592-8721 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-24 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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University of Calgary, Canada; |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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