Article
ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.
Blood advances - 8 Feb 2022
West Robert R, Calvo Katherine R, Embree Lisa J, Wang Weixin, Tuschong Laura M, Bauer Thomas R, Tillo Desiree, Lack Justin, Droll Stephenie, Hsu Amy P, Holland Steven M, Hickstein Dennis D
Abstract excerpt
Patients with GATA2 deficiencyharbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family members with the same mutation in GATA2. We investigated somatic mutations in 106 patients with GATA2 deficiency to identify acquired mutations that are associated with myeloid...
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