利用全基因组光学图谱检测多发性骨髓瘤细胞遗传学异常  

Detection of cytogenetic abnormalities in multiple myeloma by using optical genome mapping

作　　者：王艳芳[1] 张朕豪 王化[1] 郤连永 董菲[1] 景红梅[1] Wang Yanfang;Zhang Zhenhao;Wang Hua;Xi Lianyong;Dong Fei;Jing Hongmei(Department of Hematology,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院血液内科,北京100191

出　　处：《中华血液学杂志》2024年第3期303-307,共5页Chinese Journal of Hematology

摘　　要：多发性骨髓瘤(MM)是一种以单克隆浆细胞在骨髓中异常增殖为特征的血液肿瘤,MM细胞具有复杂的染色体数目异常和结构异常,这些异常对于患者的危险度分层以及疗效评估具有重要的意义。全基因组光学图谱(OGM)是一项新型的细胞遗传学检测技术,目前在肿瘤、辅助生殖、发育异常等领域已经显示出一定的应用前景,本研究首次利用OGM技术对5例新发MM患者的细胞遗传学异常进行检测,并将其与传统细胞遗传学检测技术进行了比较,从而评估该技术对染色体异常的检出能力以及在MM中的临床应用价值。Multiple myeloma(MM)is a plasma cell neoplasm characterized by numerous chromosomal number and structural abnormalities,which are of great significance for risk stratification and response evaluation of MM patients.Optical genome mapping(OGM)is a novel technology that has the potential to resolve many of the issues and limitations associated with traditional cytogenetic methods.To date,the clinical utility of OGM has been validated in the fields of cancer,reproduction,and embryonic dysplasia,et al.In this study,we compared OGM to traditional techniques for the first time in five newly diagnosed MM patients,and evaluated the potential of OGM for detecting cytogenetic aberrations and its clinical application value in MM.

关 键 词：细胞遗传学异常 异常增殖 危险度分层 染色体异常 染色体数目异常 血液肿瘤 辅助生殖 发育异常 

分 类 号：R73[医药卫生—肿瘤]