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.

带有inv（16）（p13q22）或t（16; 16）（p13; q22）染色体异常的急性髓细胞白血病（AML）代表了新生病例中最常见的亚型之一。这些染色体重排导致多个CBFB-MYH11融合转录本，其中A型最为常见。我们在这里描述了de novo AML-M1的独特情况，它带有inv（16）（p13q22），导致异常的CBFB-MYH11融合转录本和der（7）t（7; 11）（q31; q21）。融合转录涉及CBFB在核苷酸754的13-bp的序列的插入具有断点外显子5 CBFB在融合点的内含子5和MYH11外显子27在核苷酸3464处有一个断裂点。据我们所知，这种CBFB-MYH11融合转录本以前从未见过报道。本病例的临床特征与以前的报道一致，表明罕见的CBFB-MYH11融合转录本会导致异常特征，例如非典型细胞形态和其他细胞遗传学异常。