Department of Clinical Laboratory, Traditional Chinese Medical Hospital of Langfang City, Langfang, Hebei, China.
Department of Medical Hematology, Traditional Chinese Medical Hospital of Langfang City, Langfang, Hebei, China.
Braz J Med Biol Res. 2021 Oct 29;54(12):e11605. doi: 10.1590/1414-431X2021e11605. eCollection 2021.
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.
16 号染色体倒位（inv(16)）合并 13 号染色体长臂 1 区 1 带缺失（del(13q)）在急性髓系白血病（AML）中较为常见，其导致核结合因子β亚单位（CBFβ）/平滑肌肌球蛋白重链 11（MYH11）融合基因形成。CBFβ 基因在 16q22 区和 MYH11 基因在 16p13.1 区的断裂点不同，因此形成不同的 CBFβ/MYH11 融合基因，目前已报道超过 13 种类型。I 型 CBFβ/MYH11 融合转录本非常罕见，目前仅报道了 10 例。本病例报告描述了一例伴有 inv(16)(p13.1q22)和罕见 I 型 CBFβ/MYH11 融合基因的原发性 AML 患者。形态学分析不符合典型的 M4eo。异常嗜酸性粒细胞小于 5%，且明显颗粒异常。患者初始化疗后 487 天达到血液学和遗传学缓解，但 CBFβ/MYH11 融合持续阳性。此外，非 A 型融合的存在可能影响其生物学和临床预后。因此，进一步研究其生物学和预后意义至关重要。
