JaLCDOI 10.18926/AMO/52408
FullText URL 68_2_119.pdf
Author Takeda, Akiko| Shimada, Akira| Hamamoto, Kazuko| Yoshino, Syuuji| Nagai, Tomoko| Fujii, Yousuke| Yamada, Mutsuko| Nakamura, Yoshimi| Watanabe, Toshiyuki| Watanabe, Yuki| Yamamoto, Yuko| Sakakibara, Kanae| Oda, Megumi| 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 24743787
Web of Science KeyUT 000334652700007