KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement

Hee Je Kim, Hee Jin Kim, Hee Kyung Ahn, Chul Won Jung, Joon Ho Moon, Chang Hun Park, Ki O. Lee, Sun Hee Kim, Yeo Kyeoung Kim, Hyeoung Joon Kim, Sang Kyun Sohn, Sung Hyun Kim, Won Sik Lee, Kyoung Ha Kim, Yeung Chul Mun, Hawk Kim, Jinny Park, Woo Sung Min, Dong Hwan Dennis Kim

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52 Scopus citations


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.

Original languageEnglish
Pages (from-to)163-171
Number of pages9
JournalAnnals of Hematology
Issue number2
StatePublished - Jan 2013

Bibliographical note

Funding Information:
Acknowledgments This work was supported by the National Research Foundation of Korea(NRF) grant funded by the Korea government(MEST) (2009-0088130 and 2010-0028016), by a grant from the Korea Health 21 R&D Project, Ministry of Health & Welfare, Korea (01-PJ10-PG6-01GN16-0005) and by a grant #CRS-108-02-1 from the Clinical Research Development Program at Samsung Medical Center, Seoul, Korea. The biospecimens for this study were provided in part by the Chonnam National University Hwasun Hospital National Biobank of Korea, a member of the National Biobank of Korea, which is supported by the Ministry of Health, Welfare and Family Affairs. All samples derived from the National Biobank of Korea were obtained with informed consent under institutional review board-approved protocols.


  • Core binding factor-positive acute myeloid leukemia
  • KIT
  • Korea
  • Mutation


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