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Familial myelodysplasia and acute myeloid leukaemia – a review
Author(s) -
Owen Carolyn,
Barnett Michael,
Fitzgibbon Jude
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2007.06909.x
Subject(s) - cebpa , medicine , myeloid , germline , pedigree chart , runx1 , germline mutation , myelodysplastic syndromes , oncology , mutation , genetics , gene , biology , haematopoiesis , bone marrow , stem cell
Summary 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.