Kurata Keiji, Yamamoto Katsuya, Okazaki Yoko, Noguchi Yoriko, Matsui Keiji, Matsumoto Hisayuki, Inui Yumiko, Yakushijin Kimikazu, Ito Mitsuhiro, Nakamachi Yuji, Matsuoka Hiroshi, Saegusa Jun, Minami Hironobu
Department of Medical Oncology and Hematology, Kobe University Hospital, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe City 650-0017, Japan.
Department of Medical Oncology and Hematology, Kobe University Hospital, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe City 650-0017, Japan.
Cancer Genet. 2020 Feb;241:72-76. doi: 10.1016/j.cancergen.2019.07.005. Epub 2019 Jul 24.
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.
伴有inv(16)(p13q22)或t(16;16)(p13;q22)染色体异常的急性髓系白血病（AML）是初发病例中最常见的亚型之一。这些染色体重排会产生多种CBFB-MYH11融合转录本，其中A型最为常见。我们在此描述了一例独特的初发AML-M1病例，伴有inv(16)(p13q22)，导致一种不寻常的CBFB-MYH11融合转录本，以及der(7)t(7;11)(q31;q21)。该融合转录本涉及CBFB外显子5，其断点位于核苷酸754处，在融合点插入了一段13bp的CBFB内含子5序列，以及MYH11外显子27，其断点位于核苷酸3464处。据我们所知，这种CBFB-MYH11融合转录本此前从未被报道过。本病例的临床特征与先前的报道一致，提示罕见的CBFB-MYH11融合转录本会导致异常特征，如非典型细胞形态学和其他细胞遗传学异常。
