Detection of a novel CBFB-MYH11 fusion transcript in acute myeloid leukemia M1 with inv(16)(p13q22).

Acute myeloid leukemia (AML) with an inv(16)(p13q22) or t(16;16)(p13;q22) chromosomal abnormality represents one of the most common subtypes of de novo cases. These chromosomal rearrangements result in multiple CBFB-MYH11 fusion transcripts, with type-A being the most frequent. We here describe a unique case of de novo AML-M1, with inv(16)(p13q22), leading to an unusual CBFB-MYH11 fusion transcript, and der(7)t(7;11)(q31;q21). The fusion transcript involves a CBFB exon 5 with a breakpoint at nucleotide 754, an insertion of a 13-bp sequence of CBFB intron 5 at the fusion point, and the MYH11 exon 27 with a breakpoint at nucleotide 3464. To our knowledge, this CBFB-MYH11 fusion transcript has never been reported previously. The clinical characteristics of the present case are in line with previous reports suggesting that rare CBFB-MYH11 fusion transcripts lead to aberrant characteristics such as an atypical cytomorphology and additional cytogenetic abnormalities.

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Declaration of Competing Interest Dr. Minami reports grants, personal fees and other from Novartis, during the conduct of the study; grants from Asahi-Kasei Pharma, grants from Astellas, other from AstraZeneca, grants, personal fees and other from Bayer, grants and personal fees from Behringer, grants, personal fees and other from Bristol-Myers Squibb, personal fees from Celgene, grants, personal fees and other from Chugai, grants, personal fees and other from DaiichiSankyo, grants and personal fees from DaiNihonSumitomo, grants and personal fees from Eizai, personal fees from Janssen, personal fees from Kowa, grants and personal fees from Kyowa-Kirin, grants and personal fees from Lilly, grants and personal fees from Merck Serono, grants, personal fees and other from MSD, grants from Nihon Shinyaku, grants and personal fees from Nippon Chemiphar, grants and personal fees from Eizai, grants, personal fees and other from Ono Yakuhin, personal fees from Ohtsuka, grants, personal fees and other from Pfizer, grants and personal fees from Sanofi, personal fees from Shire Japan, grants, personal fees and other from Taiho, grants from Taisho-Toyama, grants and personal fees from Takeda, grants from Teijin Pharma, grants from Yakult, personal fees from Genomic Health, grants from CSL Behring, grants from Nihon Kayaku, grants from Shionogi, outside the submitted work; Other Authors: none.