a Division of Pathology and Laboratory Medicine , Hebei Yanda Lu Daopei Hospital , Langfang , China.
b Department of Hematology , Peking University First Hospital , Beijing , China.
Leuk Lymphoma. 2019 Apr;60(4):1071-1078. doi: 10.1080/10428194.2018.1516876. Epub 2018 Oct 2.
Fusion genes are major molecular biological abnormalities in hematological malignancies. This study aimed to depict the common recurrent gene-fusion landscape in acute myeloid leukemia (AML). 3135 de novo AML cases were enrolled and 36 recurrent fusion genes were assessed using multiplex-nested RT-PCR. Twenty-three distinct fusion genes were detected in 1292 (41.21%) cases. The incidence of fusion genes was higher in pediatric AML than in adult cases. The pediatric patients had higher incidences of RUNX1-RUNX1T1, KMT2A-MLLT3, KMT2A-MLLT10, KMT2A-MLLT11, KMT2A-MLLT6, and FUS-ERG, whereas KMT2A-PTD was more common in adult patients. The occurrence of molecular abnormalities involving the KMT2A gene and CBFB-MYH11 was lower in Chinese pediatric AML compared to Western reports. The incidence of RUNX1-RUNX1T1 was higher in both pediatric and adult patients in our study than in Western countries. This study provides a genetic landscape of common fusion genes in Chinese AML and confirms different incidences between age groups and races.
融合基因是血液系统恶性肿瘤中主要的分子生物学异常。本研究旨在描述急性髓细胞白血病（AML）中常见的反复出现的基因融合图谱。共纳入 3135 例初发 AML 病例，并采用多重巢式 RT-PCR 检测 36 种常见的融合基因。在 1292 例（41.21%）病例中检测到 23 种不同的融合基因。与成人病例相比，儿科 AML 中融合基因的发生率更高。儿科患者中 RUNX1-RUNX1T1、KMT2A-MLLT3、KMT2A-MLLT10、KMT2A-MLLT11、KMT2A-MLLT6 和 FUS-ERG 的发生率较高，而 KMT2A-PTD 在成人患者中更为常见。与西方报道相比，中国儿科 AML 中涉及 KMT2A 基因和 CBFB-MYH11 的分子异常发生率较低。本研究提供了中国 AML 中常见融合基因的遗传图谱，并证实了不同年龄组和种族之间的发生率存在差异。
