ID | 52408 |
JaLCDOI | |
FullText URL | |
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
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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).
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Keywords | AMKL
infant
RBM15-MKL1
OTT-MAL
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Amo Type | Case Report
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Publication Title |
Acta Medica Okayama
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Published Date | 2014-04
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Volume | volume68
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Issue | issue2
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Publisher | Okayama University Medical School
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Start Page | 119
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End Page | 123
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ISSN | 0386-300X
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NCID | AA00508441
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Content Type |
Journal Article
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language |
English
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Copyright Holders | CopyrightⒸ 2014 by Okayama University Medical School
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File Version | publisher
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Refereed |
True
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PubMed ID | |
Web of Science KeyUT |