Detection of RBM15-MKL1 fusion was useful for diagnosis and monitoring of minimal residual disease in infant acute megakaryoblastic leukemia

Akiko Takeda, Akira Shimada, Kazuko Hamamoto, Syuuji Yoshino, Tomoko Nagai, Yousuke Fujii, Mutsuko Yamada, Yoshimi Nakamura, Toshiyuki Watanabe, Yuki Watanabe, Yuko Yamamoto, Kanae Sakakibara, Megumi Oda, Tsuneo Morishima

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Acute megakaryocytic leukemia (AMKL) with t(l; 22)(pl3; ql3) 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. Theref+ore, 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(l; 22)(pl3; ql3). 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(l; 22)(pl3; ql3).

Original languageEnglish
Pages (from-to)119-123
Number of pages5
JournalActa medica Okayama
Volume68
Issue number2
Publication statusPublished - 2014

Keywords

  • AMKL
  • Infant
  • OTT-MAL
  • RBM15-MKL1

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Takeda, A., Shimada, A., Hamamoto, K., Yoshino, S., Nagai, T., Fujii, Y., Yamada, M., Nakamura, Y., Watanabe, T., Watanabe, Y., Yamamoto, Y., Sakakibara, K., Oda, M., & Morishima, T. (2014). Detection of RBM15-MKL1 fusion was useful for diagnosis and monitoring of minimal residual disease in infant acute megakaryoblastic leukemia. Acta medica Okayama, 68(2), 119-123.