Kanae Sakakibara    Department   Kawasaki University of Medical Welfare  ,    Position   Assistant Professor
Article types	原著
Language	English
Peer review	Peer reviewed
Title	Detection of RBM15-MKL1 fusion was useful for diagnosis and monitoring of minimal residual disease in infant acute megakaryoblastic leukemia
Journal	Formal name：Acta Medica Okayama Abbreviation：Acta Med Okayama ISSN code：0386300X
Domestic / Foregin	Foregin
Volume, Issue, Page	68(2),pp.119-123
Author and coauthor	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
Publication date	2014/04
Summary	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).