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Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosis
Author(s) -
Terada Kazuki,
Yamaguchi Hiroki,
Ueki Toshimitsu,
Usuki Kensuke,
Kobayashi Yutaka,
Tajika Kenji,
Gomi Seiji,
Kurosawa Saiko,
Saito Riho,
Furuta Yutaka,
Miyadera Keiki,
Tokura Taichiro,
Marumo Atsushi,
Omori Ikuko,
Sakaguchi Masahiro,
Fujiwara Yusuke,
Yui Shunsuke,
Ryotokuji Takeshi,
Arai Kunihito,
Kitano Tomoaki,
Wakita Satoshi,
Fukuda Takahiro,
Inokuchi Koiti
Publication year - 2018
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22542
Subject(s) - myeloid leukemia , gene mutation , myeloid , medicine , oncology , cancer research , mutation , gene , biology , genetics
BCOR gene is a transcription regulatory factor that plays an essential role in normal hematopoiesis. The wider introduction of next‐generation sequencing technology has led to reports in recent years of mutations in the BCOR gene in acute myeloid leukemia (AML), but the related clinical characteristics and prognosis are not sufficiently understood. We investigated the clinical characteristics and prognosis of 377 de novo AML cases with BCOR or BCORL1 mutation. BCOR or BCORL1 gene mutations were found in 28 cases (7.4%). Among cases aged 65 years or below that were also FLT3 ‐ITD‐negative and in the intermediate cytogenetic prognosis group, BCOR or BCORL1 gene mutations were observed in 11% of cases (12 of 111 cases), and this group had significantly lower 5‐year overall survival (OS) (13.6% vs. 55.0%, P = 0.0021) and relapse‐free survival (RFS) (14.3% vs. 44.5%, P = 0.0168) compared to cases without BCOR or BCORL1 gene mutations. Multivariate analysis demonstrated that BCOR mutations were an independent unfavorable prognostic factor ( P = 0.0038, P = 0.0463) for both OS and RFS. In cases of AML that are FLT3 ‐ITD‐negative, aged 65 years or below, and in the intermediate cytogenetic prognosis group, which are considered to have relatively favorable prognosis, BCOR gene mutations appear to be an important prognostic factor.