| 张作慧,邱百红,钟艳青,等.SMC1A基因突变的儿童急性髓系白血病 1例预后分析及文献复习[J].安徽医药,2024,28(10):2050-2053. |
| SMC1A基因突变的儿童急性髓系白血病 1例预后分析及文献复习 |
| The prognosis of a child with acute myeloid leukemia carrying SMC1A gene mutation and literature review |
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| DOI：10.3969/j.issn.1009-6469.2024.10.029 |
| 中文关键词: 急性髓系白血病 高通量核苷酸序列分析 SMC1A 基因突变 突变来源 预后 儿童 |
| 英文关键词: Acute myeloid leukemia High-throughput nucleotide sequencing SMC1A Gene mutation Source of mutation Prognosis Child |
| 基金项目:潍坊市卫生健康委员会项目( WFWSJK-2023-380) |
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| 中文摘要: |
| 目的探讨合并 SMC1A基因突变的儿童急性髓系白血病( AML)治疗经验及预后。方法对潍坊市人民医院 2021年 6月收治的 1例 SMC1A基因突变的 AML病儿资料进行回顾性分析，验证突变来源，并复习相关文献分析该突变对 AML发病、治疗尤其是供体选择及预后的影响，随访截止时间为 2022年 8月。结果男， 7岁，“腹部外伤伴血尿并发现白细胞增高 3d”诊，入院诊断 AML(M1)血液肿瘤全转录组检测检出 FLT3-ITD，CEBPAP23fs及SM因C1A R586P三处基因变异。 Sanger测序验就证该病儿 SMC1A基因突变，为体细胞突变而非胚系突变，为移植供体选择同胞全相合弟弟提供依据。结论对于存在 SMC1A |
| 英文摘要: |
| Objective To explore the clinical experience and prognosis of childhood acute myeloid leukemia (AML) with SMC1A gene mutation.Methods A retrospective analysis was conducted on the data of an AML patient with SMC1A gene mutation admittedto Weifang People's Hospital in June 2021, and the origin of the mutation was verified, and relevant literature were reviewed to explorethe impact of the mutation on the pathogenesis, treatment, especially donor selection and prognosis. The follow-up period ended in August 2022.Results A 7 year-old boy with abdominal trauma accompanied by hematuria and leucocytosis for 3 days was reported. Thepatient was diagnosed with AML (M1), and whole transcriptome resequencing of hemooncology detected three gene variants of FLT3ITD, CEBPA P23fs and SMC1A R586P respectively. The SMC1A gene mutation in this child was somatic mutation rather than germ‐line mutation, which provided a basis for selecting his identical sibling brother as transplantation donor.Conclusion For children with SMC1A gene mutation, verifying the mutation source and analyzing the gene mutation in combination with the literature is helpful totimely adjust the diagnosis and treatment plan and understand the prognosis of the disease. |
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