Immunophenotypic Profile Predictive of KIT Activating Mutations in AML1-ETO Leukemia

摘要: Translocation (8;21)/AML1-ETO is considered a favorable cytogenetic abnormality in acute myeloid leukemia (AML). However, associated KIT activating mutations confer poor outcome. The immunophenotype with AML1-ETO has not previously been elucidated. We retrospectively reviewed the by flow cytometry of 56 cases AML t(8;21) and compared them 100 without t(8;21). In 21 cases, we sought direct sequencing. Although CD19 CD56 were aberrantly expressed 42 (75%) 46 (82%) respectively, t(8;21), these markers only 4% 25%, (P < .001). 5 KIT-mutated (D816H, 3; D816Y, 1; N822K, 1) had diminished expression = .04) definite .30) on blasts. Our study suggests that are positive leukemic blasts and, thus, can be phenotypically distinguished from leukemias mutations.