KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement
- Authors
- Kim, Hee-Jin; Ahn, Hee Kyung; Jung, Chul Won; Moon, Joon Ho; Park, Chang-Hun; Lee, Ki-O; Kim, Sun-Hee; Kim, Yeo-Kyeoung; Kim, Hyeoung-Joon; Sohn, Sang Kyun; Kim, Sung Hyun; Lee, Won Sik; Kim, Kyoung Ha; Mun, Yeung-Chul; Kim, Hawk; Park, Jinny; Min, Woo-Sung; Kim, Hee-Je; Kim, Dong Hwan Dennis
- Issue Date
- Jan-2013
- Publisher
- SPRINGER
- Keywords
- Core binding factor-positive acute myeloid leukemia; KIT; Mutation; Korea
- Citation
- ANNALS OF HEMATOLOGY, v.92, no.2, pp.163 - 171
- Journal Title
- ANNALS OF HEMATOLOGY
- Volume
- 92
- Number
- 2
- Start Page
- 163
- End Page
- 171
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/14832
- DOI
- 10.1007/s00277-012-1580-5
- ISSN
- 0939-5555
- Abstract
- Core binding factor (CBF)-positive acute myeloid leukemia (AML) presents a favorable prognosis, except for patients with KIT mutation, especially D816 mutation. The current retrospective study attempted to validate a prognostic role of KIT mutation in 121 Korean patients with CBF AML. The study patients consisted of 121 patients with CBF AML (82 patients with RUNX1/RUNX1T1 [67.8 %] and 39 patients with CBFB/MYH11 [32.2 %]) recruited from eight institutions in Korea. All patients received idarubicin plus cytarabine or behenoyl cytosine arabinoside 3 + 7 induction chemotherapy. The KIT gene mutation status was determined by direct sequencing analyses. A KIT mutation was detected in 32 cases (26.4 %) in our series of patients. The KIT mutation was most frequent in exon 17 (n = 18, 14.9 %; n = 16 with D816 mutation), followed by exon 8 (n = 10, 8.3 %). The presence of KIT D816 mutation was associated with adverse outcomes for the event-free survival (p = 0.03) and for the overall survival (p = 0.02). The unfavorable impact of D816 mutation was more prominent when the analysis was confined to the RUNX1/RUNX1T1 subtype. The KIT mutation was detected in 26.4 % of Korean patients with CBF AML. The KIT D816 mutation demonstrated an unfavorable prognostic implication, particularly in the RUNX1/RUNX1T1 subtype.
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