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GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

19 Apr 2018

Abstract excerpt

While the majority of myelodysplasia and acute myeloid leukemia (MDS/AML) cases are sporadic, rare familial predisposition syndromes have been delineated and now represent a separate disease entity in the revised World Health Organization (WHO) classification of myeloid neoplasms [ 1 ]. Germline mutations in ~14 disease genes have been uncovered thus far, with GATA2 representing one of the key transcriptional...

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PMID: 29749400
DOI: 10.1038/s41375-018-0134-9

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