595 例初诊儿童急性髓系白血病患者36 种融合基因筛查分析
| 作者: |
1陈雪,
1王芳,
1房建成,
1张阳,
2朱平,
2张英,
1聂代静,
1马小丽,
1张薇,
1张羽,
1王明宇,
1,3刘红星
1 河北燕达陆道培医院病理和检验医学科，河北 廊坊 065201 2 北京大学第一医院血液科，北京 100034 3 北京陆道培血液病研究院，北京 100176 |
| 通讯: |
刘红星
Email: starliu@pku.edu.cn |
| DOI: | 10.3978/j.issn.2095-6959.2018.06.011 |
摘要
目的：分析初诊儿童急性髓系白血病(acute myelo id leukemia，AML)患者36种融合基因情况。 方法：回顾分析2006至2017年595例初诊儿童(≤14岁)AML患者的36种融合基因筛查结果。采集初诊儿童AML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检验比较不同年龄组患儿之间融合基因阳性率差异。结果：共纳入AML患儿595例，最终在338例(56.81%)患儿中检测到17种不同的融合基因。其中1例(0.17%)诊断为急性粒-单核细胞白血病伴嗜酸粒细胞增多亚型(acute myelomonocy tic leukemia w ith eosinophilia，AML-M4EO)的患儿同时存在CBFB-MYH11和BCR-ABL1(e1a2型)两种融合基因。与>2岁患儿相比，≤2岁患儿融合基因总阳性率无显著差异，但融合基因分布特征差异有统计学意义。TLS-ERG，CBFB-MYH11和MLL -AF9在≤2岁患儿中更常见，而AML1-ETO主要见于>2岁患儿。结论：各种融合基因在AML中的阳性率及其在不同年龄组中的分布不同，为进一步改进临床适用的融合基因检测方案提供了数据基础。
关键词：
急性髓系白血病；融合基因；儿童白血病
Analysis of 36 fusion genes in 595 cases of de novo pediatric acute myeloid leukemia
CorrespondingAuthor: LIU Hongxing Email: starliu@pku.edu.cn
DOI: 10.3978/j.issn.2095-6959.2018.06.011
Abstract
Objective: To analyze the gene-fusion landscape of 36 fusion genes in children with de novo acute myeloid leukemia (AML). Methods: We retrospectively analyzed the gene-fusion landscape of 36 fusion genes in 595 children (≤14 years) with de novo acute myeloid leukemia (AML) during a 11-year period from 2006 to 2017. Peripheral blood or bone marrow of childhood with de novo AML 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 in different age groups. Results: A total of 595 children with AML were included into the study. Finally, 17 different types of fusion genes were detected in 338 patients (56.81%). One patient (0.17%) diagnosed with acute myelomonocytic leukemia with eosinophilia (AML-M4EO) was positive of both CBFB-MYH11 and BCR-ABL1 (e1a2). The gene-fusion spectrums between patients less than or equal to 2 years of age and patients older than 2 years of age were significantly different, although there was no statistical difference in the total positive rate of fusion genes between the two age groups. The incidences of TLS-ERG, CBFB-MYH11 and MLL-AF9 were higher in patients less than or equal to 2 years of age, while AML1-ETO was more common in patients older than 2 years of age. Conclusion: The positive rate of various fusion genes in AML and their distribution in different age groups are different, which will help to provide a data basis for further improvement of fusion gene screening panel in clinical applications.
Keywords：
acute myeloid leukemia; fusion genes; pediatric leukemia