1392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

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

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 lymphocyt ic leukemia,B-ALL)和207例急性T淋巴细胞白血病(T-cel l acute lymphocyt ic 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。χ~2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SILTAL1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。

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 lymphocyticleukemia（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%, P0.001）. The incidences of BCR-ABL1, E2 APBX1 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.