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Int J Clin Exp Pathol 2013;6(1):110-112

Case Report
Acute myeloid leukemia with cryptic CBFB-MYH11 type D

Takashi Kobayashi, Motoshi Ichikawa, Yasuhiko Kamikubo, Mineo Kurokawa

Department of Hematology and Oncology, the Graduate School of Medicine, the University of Tokyo, Tokyo, Japan

Received October 9, 2012; Accepted November 3, 2012; Epub November 20, 2012; Published January 1, 2013

Abstract: A 77 year-old female was found with FAB M4Eo acute myeloid leukemia. Although CBFB-MYH11 mRNA was detected in RT-PCR, the
conventional cytogenetic analysis failed to reveal inv(16). Fluorescence in situ hybridization (FISH) and the sequence analysis revealed a fusion
between the exon 5 of CBFB and the exon 8 of MYH11, resulting in a minor variant fusion product previously reported as type D. In order to
detect the cryptic inv(16) type D, both FISH and RT-PCR are required, and furthermore, the primers for the sequence analysis needs to be
selected for the proper diagnosis. (IJCEP1210006).

Keywords: Acute myeloid leukemia, inversion 16, CBFB-MYH11, RT-PCR, fluorescence in situ hybridization

Address all correspondence to:
Dr. Mineo Kurokawa
Department of Hematology and Oncology
Graduate School of Medicine
University of Tokyo, 7-3-1 Hongo, Bunkyo-ku
Hongo 113-8655, Japan.
Tel: +81-3-5800-9092; Fax: +81-3-5840-8677
E-mail: kurokawa-tky@umin.ac.jp