Abstract 3565: Recurrently detected germline mutation of FLT3 (D358V) associated with prevalence of hematopoietic malignancy and prognosis of AML patients

FLT3 is most frequently mutated gene in acute myeloid leukemia patients. While somatic mutation of FLT3 is well known, germline mutation of FLT3 and predispose to AML remain poorly understood. Here we identify a germline FLT3 p.D358V affected prognosis of AML patients. We performed whole exome sequencing (WES) using 76 patients’ saliva sample to detect FLT3 germline mutation in buccal epithelial cell and demonstrate FLT3 p.D358V mutation for 6 patients among 76 patients. The frequency of FLT3 p.D358V mutation in AML patients is significantly higher in general population (p=9.50E-07), suggesting association of FLT3 mutation with AML predisposition. Asian population especially carried this locus more than other ethic population. When we compared between AML patients and general population of Asian, the chi-square p-value was 0.07 and odd ratio was 2.26. Overall survival was significantly reduced in patients who had FLT3 p.D358V mutation (p=0.03) and disease free survival was show a tendency of reducing in the patients with FLT3 p.D358V mutation. Citation Format: SEULKI SONG. Recurrently detected germline mutation of FLT3 (D358V) associated with prevalence of hematopoietic malignancy and prognosis of AML patients [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 3565. doi:10.1158/1538-7445.AM2017-3565