Retrospective analysis of 36 fusion genes in 2479 Chinese patients of de novo acute lymphoblastic leukemia
Retrospective analysis of 36 fusion genes in 2479 Chinese patients of de novo acute lymphoblastic leukemia
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DOI：
10.1016/j.leukres.2018.08.009
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发表时间：
2018-09-01
影响因子：
2.7
通讯作者：
Liu, Hongxing
中科院分区：
文献类型：
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作者：
Chen, Xue;Wang, Fang;Liu, Hongxing
融合基因是血液恶性肿瘤中主要的分子生物学异常。为了描述急性淋巴细胞白血病 (ALL) 中常见的复发性基因融合情况，使用多重巢式 RT-PCR 对 2479 名新发 ALL 患者评估了血液系统恶性肿瘤中的 36 个复发性融合基因。 712例（28.72%）中检测到17种不同的融合基因。在 6 名（0.24%）患者中观察到不同融合基因的共现。 B-ALL中融合基因的发生率显着高于T-ALL（31.40% vs. 14.50%，P < 0.001）。儿童 ALL 中 ETV6-RUNX1、TCF3-PBX1 和 STIL-TAL1 的患病率较高，而 BCR-ABL1 和 SET-NUP214 在成人 ALL 中更常见。 BCR-ABL1、TCF3-PBX1、KMT2A-AFF1 和 ETV6-RUNX1 在 B-ALL 中更为常见。相反，KMT2A-MLLT4、SET-NUP214和STIL-TAL1在T-ALL中发生率较高。与西方队列相比，我们的研究中儿童 B-ALL 患者中 BCR-ABL1 的发生率（5.94%）要高得多，而 ETV6-RUIVX1 的发生率（13.19%）显着低于西方报告。这项研究提供了 ALL 患者常见融合基因的遗传图谱，并可作为进一步改进临床应用融合基因筛选组的基础。
Fusion genes are major molecular biological abnormalities in hematological malignancies. To depict the common recurrent gene-fusion landscape in acute lymphoblastic leukemia (ALL), 36 recurrent fusion genes in hematologic malignancies were assessed using multiplex-nested RT-PCR in 2479 patients with de novo ALL. 17 kinds of distinct fusion genes were detected in 712 (28.72%) cases. Co-occurrence of different fusion genes was observed in 6 (0.24%) patients. Incidence of fusion genes in B-ALL was significantly higher than in T-ALL (31.40% vs. 14.50%, P < 0.001). Pediatric ALL had higher prevalence of ETV6-RUNX1, TCF3-PBX1, and STIL-TAL1, while BCR-ABL1 and SET-NUP214 were more common in adult ALL. BCR-ABL1, TCF3-PBX1, KMT2A-AFF1 and ETV6-RUNX1 were more frequent in B-ALL. On the contrary, KMT2A-MLLT4, SET-NUP214 and STIL-TAL1 were of higher incidence in T-ALL. In comparison with Western cohorts, the incidence of BCR-ABL1 (5.94%) was much higher in our series, while the occurrence of ETV6-RUIVX1 (13.19%) was significantly lower in pediatric B-ALL patients in our study than in Western reports. This study provides a genetic landscape of common fusion genes in ALL patients and may serve as a foundation for further improvement of a fusion gene screening panel for clinical applications.