Article
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
Haematologica - 1 Jun 2012
Bödör Csaba, Renneville Aline, Smith Matthew, Charazac Aurélie, Iqbal Sameena, Etancelin Pascaline, Cavenagh Jamie, Barnett Michael J, Kramarzová Karolina, Krishnan Biju, Matolcsy András, Preudhomme Claude, Fitzgibbon Jude, Owen Carolyn
Abstract excerpt
While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in RUNX1 or CEBPA. Recently, novel germline mutations in GATA2 have been r...
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