ID 52408
JaLCDOI
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Author
Takeda, Akiko
Hamamoto, Kazuko
Yoshino, Syuuji
Nagai, Tomoko
Fujii, Yousuke
Yamada, Mutsuko
Nakamura, Yoshimi
Watanabe, Toshiyuki
Watanabe, Yuki
Yamamoto, Yuko
Sakakibara, Kanae
Morishima, Tsuneo
Abstract
Acute megakaryocytic leukemia (AMKL) with t(1;22)(p13;q13) is a distinct category of myeloid leukemia by WHO classification and mainly reported in infants and young children. Accurate diagnosis of this type of AMKL can be difficult, because a subset of patients have a bone marrow (BM) blast percentage of less than 20% due to BM fibrosis. Therefore, it is possible that past studies have underestimated this type of AMKL. We present here the case of a 4-month-old female AMKL patient who was diagnosed by presence of the RBM15-MKL1 (OTT-MAL) fusion transcript by RT-PCR. In addition, we monitored RBM15-MKL1 fusion at several time points as a marker of minimal residual disease (MRD), and found that it was continuously negative after the first induction chemotherapy even by nested RT-PCR. Detection of the RBM15-MKL1 fusion transcript thus seems to be useful for accurate diagnosis of AMKL with t(1;22)(p13;q13). We recommend that the RBM15-MKL1 fusion transcript be analyzed for all suspected AMKL in infants and young children. Furthermore, monitoring of MRD using this fusion transcript would be useful in treatment of AMKL with t(1;22)(p13;q13).
Keywords
AMKL
infant
RBM15-MKL1
OTT-MAL
Amo Type
Case Report
Published Date
2014-04
Publication Title
Acta Medica Okayama
Volume
volume68
Issue
issue2
Publisher
Okayama University Medical School
Start Page
119
End Page
123
ISSN
0386-300X
NCID
AA00508441
Content Type
Journal Article
language
英語
Copyright Holders
CopyrightⒸ 2014 by Okayama University Medical School
File Version
publisher
Refereed
True
PubMed ID
Web of Science KeyUT