Zhang JinFang, Zhong MingYan
Department of Paediatric Hematology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou City, Guangdong Province, China.
SAGE Open Med Case Rep. 2024 Sep 19;12:2050313X241272534. doi: 10.1177/2050313X241272534. eCollection 2024.
Hereditary factors contribute to the pathogenesis of pediatric leukemia. However, few studies have reported gene mutation pathopoeias. This paper reports genetic mutations associated with hereditary acute lymphoblastic leukemia. We reported a case of siblings diagnosed with acute lymphoblastic leukemia when aged 3 and 7 years, both siblings are alive after chemotherapy, and whole exome sequencing analysis was performed on the siblings and their parents. It was observed that both siblings had diheterozygous mutations in gene (, NM_033250, exon7, c.2170AG, p.S724G; , NM_033250, exon7, c.2195GT, p.G732V), and their parents had heterozygous mutations in one mutation site of gene, respectively, suggesting that the diheterozygous mutations of gene might be causal genetic genes for the occurrence of acute lymphoblastic leukemia.
遗传因素在儿童白血病的发病机制中起作用。然而，很少有研究报道基因突变致病机制。本文报道了与遗传性急性淋巴细胞白血病相关的基因突变。我们报告了一例 siblings 病例，这对 siblings 在 3 岁和 7 岁时被诊断为急性淋巴细胞白血病，经过化疗后两个 siblings 均存活，并对这对 siblings 及其父母进行了全外显子测序分析。观察到两个 siblings 在 基因（, NM_033250, 外显子 7, c.2170A>G, p.S724G; , NM_033250, 外显子 7, c.2195G>T, p.G732V）中均存在双杂合突变，而他们的父母在 基因的一个突变位点分别存在杂合突变，提示 基因的双杂合突变可能是急性淋巴细胞白血病发生的致病基因。 （注：原文中“siblings”未明确具体含义，直接保留英文）
