检测儿童急性淋巴细胞白血病中的基因突变及其临床意义。
Detection of gene mutation and its clinical significance in children with acute lymphoblastic leukemia.
机构信息
Department of Hematology, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Mar 15;24(3):309-313. doi: 10.7499/j.issn.1008-8830.2109141.
OBJECTIVES
To investigate the mutation rate of the gene and its clinical significance in children with acute lymphoblastic leukemia.
METHODS
A retrospective analysis was performed on the medical data of 120 children with newly diagnosed acute lymphoblastic leukemia, who were admitted to the Third Affiliated Hospital of Zhengzhou University from January 2015 to January 2020 and underwent next-generation sequencing. The clinical and molecular features were analyzed. The impact of gene mutation on the overall survival rate was evaluated in these children.
RESULTS
Among the 120 children, 35 (29.2%) had gene mutation, 30 (25.0%) had gene mutation, and 5 (4.2%) had both and gene mutations. All mutations and 71% (25/35) of mutations were located at the 12th and 13th codons. gene mutation was detected in 35 (33.3%) out of 105 children with B-lineage acute lymphoblastic leukemia, but it was not detected in those with acute T lymphocyte leukemia. Of all the children, 11 (9.2%) were lost to follow-up, and among the 109 children followed up, 16 (14.7%) died. The children with gene mutation had a significantly lower 2-year overall survival rate than those without gene mutation (<0.05). The prognosis of children with gene mutation combined with overexpression and WBC>50×10/L at diagnosis was worse (<0.05).
CONCLUSIONS
gene mutation is commonly observed in children with B-lineage acute lymphoblastic leukemia and may have an adverse effect on prognosis.
目的
研究基因的突变率及其在儿童急性淋巴细胞白血病中的临床意义。
方法
回顾性分析 2015 年 1 月至 2020 年 1 月郑州大学第三附属医院收治的 120 例初诊急性淋巴细胞白血病患儿的临床资料，所有患儿均接受下一代测序，分析其临床及分子特征。评估基因突变对患儿总生存率的影响。
结果
在 120 例患儿中，35 例（29.2%）存在基因突变，30 例（25.0%）存在基因突变，5 例（4.2%）同时存在基因和基因突变。所有突变和 71%（25/35）的突变均位于第 12 位和第 13 位密码子。105 例 B 系急性淋巴细胞白血病患儿中检出 35 例（33.3%）基因突变，而急性 T 淋巴细胞白血病患儿中未检出。所有患儿中 11 例（9.2%）失访，109 例随访患儿中 16 例（14.7%）死亡。携带基因突变的患儿 2 年总生存率明显低于未携带基因突变的患儿（<0.05）。同时携带基因突变和过表达以及初诊时白细胞计数>50×10/L 的患儿预后更差（<0.05）。
结论
基因在 B 系急性淋巴细胞白血病患儿中较为常见，可能对预后有不良影响。
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