Familial myelodysplasia and acute myeloid leukaemia – a review
Open Access
- 14 December 2007
- journal article
- review article
- Published by Wiley in British Journal of Haematology
- Vol. 140 (2), 123-132
- https://doi.org/10.1111/j.1365-2141.2007.06909.x
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.Keywords
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