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

Title
KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement
Authors
Kim H.-J.Ahn H.K.Jung C.W.Moon J.H.Park C.-H.Lee K.-O.Kim S.-H.Kim Y.-K.Sohn S.K.Kim S.H.Lee W.S.Kim K.H.Mun Y.-C.Kim H.Park J.Min W.-S.Kim D.H.D.
Ewha Authors
문영철
SCOPUS Author ID
문영철scopus
Issue Date
2013
Journal Title
Annals of Hematology
ISSN
0939-5555JCR Link
Citation
vol. 92, no. 2, pp. 163 - 171
Indexed
SCI; SCIE; SCOPUS WOS scopus
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. © 2012 Springer-Verlag Berlin Heidelberg.
DOI
10.1007/s00277-012-1580-5
Appears in Collections:
의과대학 > 의학과 > Journal papers
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