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一次性儿科急性骨髓单细胞白血病与t(3;21)(q26;q22):一个病例报告

Jia-Xin Duan¹, Fang Liu, Li Chang

¹Department of Laboratory Medicine, West China Second University Hospital, and Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan University, Chengdu, China.

|October 31, 2023

概括

一个罕见的儿科急性骨髓母细胞白血病病例,具有t(3;21) 转位和RUNX1-MECOM/RUNX1-RPL22融合基因,在化疗失败后,通过全源造血干细胞移植 (Allo-HSCT) 成功治疗.

科学领域:

血液学血液学血液学
在瘤学瘤学.
遗传学是一个遗传学.

背景情况:

这种t(3;21)(q26;q22) 转位很少见,与髓状瘤有关.
它产生了融合转录,包括RUNX1-MECOM和RUNX1-RPL22.
这种转位通常与与治疗相关的髓状瘤有关.

研究的目的:

报告一个罕见的新出现的急性骨髓单细胞白血病病例,该病例发生在患有t(3;21)(q26;q22的儿童身上.
突出基因融合在儿科白血病中的作用.
评估这种特定基因亚型的治疗结果.

主要方法:

一名患有白血病症状的2.5岁女性接受了诊断评估.
骨髓分析证实了急性骨髓单细胞白血病.
细胞遗传学和测序确定了t(3;21) 转位和RUNX1-MECOM/RUNX1-RPL22融合基因.

主要成果:

患者接受了化疗,但没有达到缓解.
进行了全基性造血干细胞移植 (Allo-HSCT).
患者在移植后表现出积极的结果,血液细胞数量恢复,肺炎消失.

结论:

全源性造血干细胞移植 (Allo-HSCT) 可以成为儿童急性骨髓单细胞白血病的有效治疗方法.
对于没有对化疗反应的RUNX1-MECOM和RUNX1-RPL22融合基因患者,Allo-HSCT是一种可行的治疗选择.
这一案例强调了基因分析在指导罕见白血病治疗决策方面的重要性.

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