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Myeloid malignancies with somatic GATA 2 mutations can be associated with an immunodeficiency phenotype.
Leukemia & Lymphoma 2019 August
Germline mutations in GATA 2 are associated with a complex immunodeficiency and cancer predisposition syndrome. Somatic GATA 2mut in myeloid malignancies may impart a similar phenotype. We reviewed adult patients with a diagnosis of GATA 2mut hematological malignancy who were referred to our HHMC for genetic testing, and identified to have somatic GATA 2mut . Nine patients with a median age of 63 years were included. Six patients (66.7%) were males. Atypical CML and acute myeloid leukemia were the most common initial presentation. The median overall VAF was 47.14%. Monocytopenia was pronounced when the GATA 2mut involved the C-terminal ZFD. GATA 2 N-terminal ZFD mutations tend to be co-mutated with biCEBPAmut . Unlike germline GATA 2 mutations, monocytopenia associated with somatic GATA 2 mutations often resolved at remission. We concluded that similar to germline GATA 2 mutations, a subset of somatic GATA 2 mutations can impart a germline phenotype.
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