文章摘要

1 392例初诊儿童急性淋巴细胞白血病患者36种融合基因筛查分析

作者: 1张建平, 2杨君芳, 3王芳, 3房建成, 3张阳, 4朱平, 4张英, 3聂代静, 3马小丽, 3张羽, 3王明宇, 3张薇, 3陈雪, 3,5刘红星
1 河北燕达陆道培医院造血干细胞移植科，河北 廊坊 065201
2 河北燕达陆道培医院血液科，河北 廊坊 065201
3 河北燕达陆道培医院病理和检验医学科，河北 廊坊 065201
4 北京大学第一医院血液科，北京 100034
5 北京陆道培血液病研究院，北京 100176
通讯: 陈雪 Email: chenxue@bjmu.edu.cn
刘红星 Email: starliu@pku.edu.cn
DOI: 10.3978/j.issn.2095-6959.2018.05.008

摘要

目的：分析1 392例急性淋巴细胞白血病(acute lymphoblastic leukemia，ALL)患儿的36种融合基因情况。方法：回顾性分析2006年9月至2017年4月1 392例[1 185例急性B淋巴细胞白血病(B-cell acute lymphocytic leukemia，B-ALL)和207例急性T淋巴细胞白血病(T-cell acute lymphocytic leukemia，T-ALL)]初诊儿童(≤14岁)ALL患者的36种融合基因筛查结果。采集初诊儿童ALL患者的骨髓或外周血标本，采用多重巢式PCR方法进行36种融合基因筛查。χ2检验比较B-ALL和T-ALL之间融合基因阳性率差异。结果：1 392例患者中，411例(29.53%)检测到17种融合基因，其中2例(0.49%)同时携带2种融合基因。B-ALL患者中融合基因总阳性率显著高于T-ALL患者(31.73% vs 16.91%，P<0.001)。BCR-ABL1，E2A-PBX1和TEL-AML1基因型常见于B-ALL，而SIL-TAL1仅见于T-ALL。结论：各种融合基因在ALL中的阳性率及其在B-ALL和T-ALL中的分布特征，为进一步改进临床适用的融合基因检测方案提供数据基础。
关键词： 急性淋巴细胞白血病；融合基因；儿童白血病

Analysis of 36 fusion genes in 1 392 patients of de novo pediatric acute lymphoblastic leukemia

Authors: 1ZHANG Jianping, 2YANG Junfang, 3WANG Fang, 3FANG Jiancheng, 3Yang ZHANG, 4ZHU Ping, 4ZHANG Ying, 3NIE Daijing, 3MA Xiaoli, 3ZHANG Yu, 3WANG Mingyu, 3ZHANG Wei, 3CHEN Xue, 3,5LIU Hongxing
1 Department of Bone Marrow Transplantation, Hebei Yanda Lu Daopei Hospital, Langfang Hebei 065201, China
2 Department of Hematology, Hebei Yanda Lu Daopei Hospital, Langfang Hebei 065201, China
3 Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang Hebei 065201, China
4 Department of Hematology, Peking University First Hospital, Beijing 100034, China
5 Beijing Lu Daopei Institute of Hematology, Beijing 100176, China

CorrespondingAuthor: CHEN Xue Email: chenxue@bjmu.edu.cn

DOI: 10.3978/j.issn.2095-6959.2018.05.008

Abstract

Objective: To analyze the gene-fusion landscape of 36 fusion genes in 1 392 patients (≤14 years) of de novo acute lymphoblastic leukemia (ALL). Methods: The results of 36 fusion gene screening tests were retrospectively analyzed in 1 392 cases [1 185 B-cell acute lymphocytic leukemia (B-ALL) and 207 T-cell acute lymphocytic leukemia (T-ALL)] from September 2006 to April 2017. Peripheral blood or bone marrow of childhood cases of de novo ALL were collected and total RNA were extracted. Fusion genes were assessed by multiplex-nested RT-PCR. Fisher’s exact test was performed to compare the incidences and frequencies of different fusion genes between B-ALL and T-ALL. Results: Of 1 392 patients, 17 types of fusion genes were detected in 411 patients (29.53%), and two of those cases (0.49%) with co-existence of two different fusion genes were identified. The incidence of fusion genes was statistically higher in B-ALL than in T-ALL patients (31.73% vs 16.91%, P<0.001). The incidences of BCR-ABL1, E2A-PBX1 and TEL-AML1 were higher in B-ALL, while SIL-TAL1 was detected only in T-ALL patients. Conclusion: It will help to provide a data basis for further improvement of fusion gene screening panel in clinical applications.
Keywords： acute lymphoblastic leukemia; fusion genes; pediatric leukemia

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