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Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality. It leads to the core-binding factor ß-subunit ( CBFβ )/smooth muscle myosin heavy chain 11 ( MYH11 ) fusion gene. Different breakpoints were observed in the  CBFβ  gene at 16q22 and the  MYH11  gene at 16p13.1. For this reason, different  CBFβ / MYH11  fusion genes are generated, with more than 13 types having been reported to date. Type I  CBFβ / MYH11  fusion transcripts are very rare, with only 10 cases being reported to date. This case report describes a primary AML patient with inv(16)(p13.1q22) and a rare type I  CBFβ / MYH11  fusion gene. The morphological analysis did not conform to the typical M4eo. Abnormal eosinophils were less than 5%, and there was obvious dysgranulopoiesis. The patient was in hematological and genetic remission for 487 days after the initial chemotherapy cycles. However, the  CBFβ / MYH11  fusion had been constantly positive. Moreover, the presence of non-type A fusions may affect its biology and clinical prognosis. Therefore, further studies on understanding its biological and prognostic significance are essential.

Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report