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- Title
Familial myelodysplasia and acute myeloid leukaemia--a review.
- Authors
Owen, Carolyn; Barnett, Michael; Fitzgibbon, Jude
- Abstract
Familial occurrence of myelodysplasia (MDS) and/or acute myeloid leukaemia (AML) is rare but can provide a useful resource for the investigation of predisposing mutations in these myeloid malignancies. To date, examination of families with MDS/AML has lead to the detection of two culprit genes, RUNX1 and CEBPA. Germline mutations in RUNX1 result in familial platelet disorder with propensity to myeloid malignancy and inherited mutations of CEBPA predispose to AML. Unfortunately, the genetic cause remains obscure in most other reported pedigrees. Further insight into the molecular mechanisms of familial MDS/AML will require awareness by clinicians of new patients with relevant family histories.
- Publication
British journal of haematology, 2008, Vol 140, Issue 2, p123
- ISSN
1365-2141
- Publication type
Journal Article
- DOI
10.1111/j.1365-2141.2007.06909.x