GATA2 has been identified as a new predisposing gene for familial AML/MDS. In this present study, the author’s describe the initial identification by exome sequencing of GATA2 mutation in a mother and her 3 children associated with a prior history of chronic mild neutropenia evolving to AML and/or MDS. Subsequent analysis of the French Severe Chronic Neutropenia Registry allowed the identification of 10 additional patients with GATA2 mutations in 6 pedigrees with unexplained mild neutropenia in at least 1 patient of the pedigree. The frequent evolution to MDS and AML of patients with GATA2 mutations reveals the importance of screening for this mutation in chronic neutropenia, especially when associated with monocytopenia because of frequent hematopoietic transformation, variable clinical expression at onset, and the need of aggressive strategy therapy in patients with poor clinical outcome.
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