基于二代测序的微小残留病检测发现儿童急性B淋巴细胞白血病克隆演变1例报告并文献复习  

Next-generation sequencing-based minimal residual disease detection reveals clonal evolution in pediatric acute B-lymphoblastic leukemia:a case report and literature review

作　　者：常娇 贾玉娇 王浩旭 戚本泉 蔡小矜 孙琦 竺晓凡 肖志坚 王慧君 Chang Jiao;Jia Yujiao;Wang Haoxu;Qi Benquan;Cai Xiaojin;Sun Qi;Zhu Xiaofan;Xiao Zhijian;Wang Huijun(State Key Laboratory of Experimental Hematology,National Clinical Research Center for Blood Diseases,Haihe Laboratory of Cell Ecosystem,Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Tianjin 300020,China;Tianjin Institutes of Health Science,Tianjin 301600,China)

机构地区：[1]中国医学科学院血液病医院(中国医学科学院血液学研究所),血液与健康全国重点实验室,国家血液系统疾病临床医学研究中心,细胞生态海河实验室,天津300020 [2]天津医学健康研究院,天津301600

出　　处：《中华血液学杂志》2024年第12期1138-1141,共4页Chinese Journal of Hematology

基　　金：中国医学科学院医学与健康科技创新工程(2022-I2M-1-022)。

摘　　要：微小残留病(MRD)是血液肿瘤患者经治疗取得完全缓解后体内残存微量肿瘤细胞的状态,也是评价治疗效果和预测疾病复发的重要标志物。本文回顾性分析了1例多次复发的急性B淋巴细胞白血病患儿的临床诊治及MRD监测过程,并进行相关文献复习。在本例患儿中,基于二代测序(NGS)的Ig重排MRD检测与传统MRD检测方法相比可更准确地评估MRD水平,更早地提示疾病复发,从而指导临床及时采取干预措施。此外,NGS-MRD还能发现疾病克隆演变,为进一步探究疾病发展的内在因素提供了新思路。Minimal residual disease(MRD),a crucial biomarker for assessing efficacy and predicting recurrence,refers to residual tumor cells remaining in the body of patients with hematological malignancies who achieved complete remission after treatment.This study aimed to conduct a retrospective analysis of the clinical diagnosis,treatment,and MRD monitoring of a pediatric patient with multiple acute B-lymphocytic leukemia relapses,alongside a review of relevant literature.In this case,Ig rearrangement based on next-generation sequencing(NGS)was more accurate in assessing the MRD level,compared with the traditional method of MRD detection,indicating the risk of earlier relapse and guided interventions in time.Additionally,NGS-MRD detected clonal evolution,providing new ideas to further investigate the intrinsic factors of disease development.

关 键 词：急性B淋巴细胞白血病 克隆演变 疾病复发 血液肿瘤患者 文献复习 二代测序 监测过程 内在因素 

分 类 号：R733.71[医药卫生—肿瘤]