摘要: |
目的: 探讨儿童白血病融合基因和染色体核型的分析对白血病临床分型及治疗的意义。方法: 回顾性分析2018年4月至2019年4月87例在安徽省儿童医院确诊为白血病患儿的融合基因以及染色体核型。结果: 87例白血病患儿年龄1~10岁占比86.2%。所有患儿中,淋系白血病(ALL)60例(69.0%),髓系白血病(acute myeloblastic leukemia,AML)27例(31.0%)。融合基因阳性白血病38例(43.7%),常见融合基因型有TEL-AML1、AML1-ETO、E2A-PBX1和BCR-ABL。染色体核型异常55例(63.2%),未检出异常29例(33.3%),3例未做此项检测。与融合基因匹配的特异性典型核型18例(32.7%),复杂核型37例(67.3%)。结论: 安徽省儿童白血病以淋系白血病为主,年龄集中在1~10岁。融合基因类型与染色体核型异常基本一致,但是其中TEL-AML1融合基因与核型检测结果完全不匹配,因此融合基因检测和骨髓细胞核型分析对于儿童白血病的具体分型兼具重要作用。 |
关键词: 白血病 淋系 髓系 融合基因 染色体核型 |
DOI:10.12025/j.issn.1008-6358.2020.20192004 |
分类号:R733.71 |
基金项目:国家自然科学基金青年基金项目(31601098). |
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Analysis of fusion gene and karyotype of pediatric leukemia in Anhui province |
ZHU Li-juan, SU Xiao-ji, YU Xia, WANG Yang
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Department of Clinical Laboratory, Anhui Provincial Children's Hospital, Hefei 230051, Anhui, China
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Abstract: |
Objective: To discuss the instructive roles of fusion gene analysis and karyoptyping of pediatric leukemia in its clinical classification and treatment. Methods: Retrospective analysis of fusion gene and karyotype of 87 pediatric leukemia patients diagnosed in Anhui Provincial Children's Hospital from April 2018 to April 2019. Results: 86.2% of the patients were 1-10 years old. 60 (69.0%) out of the 87 patients were diagnosed with acute lymphoid leukemia (ALL), and the remaining 27 patients (31.0%) were acute myeloid leukemia (AML). Fusion genes were positively detected in 38 patients (43.7%), among which TEL-AML1, AML1-ETO, E2A-PBX1 and BCR-ABL were the most frequent. Karyotyping analysis showed that 55 patients (63.2%) were positive for abnormal chromosome and 29 patients (33.3%) were negative; 3 patients had no data of this kind. Of the 55 patients with abnormal chromosome, the karyotype of 18 patients (32.7%) matched with the corresponding fusion gene, and the remaining 37 patients (67.3%) presented complex karyotype. Conclusions: Pediatric leukemia in Anhui is predominantly lymphoid and the patients are commonly 1-10 years old. Analytical result of fusion gene roughly matches with the karyotyping. However, none of TEL-AML1 fusion gene matches with the karyotype. Thus, both fusion gene analysis and karyotyping are necessary in clinical classification of pediatric leukemia. |
Key words: leukemia lymphoid myeloid fusion gene karyotype |