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[利用光学基因组图谱检测多发性骨髓瘤中的细胞遗传学异常]

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

作者信息

Wang Y F, Zhang Z H, Wang H, Xi L Y, Dong F, Jing H M

机构信息

Department of Hematology, Peking University Third Hospital, Beijing 100191, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2024 Mar 14;45(3):303-307. doi: 10.3760/cma.j.cn121090-20230915-00123.

Abstract

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.

摘要

多发性骨髓瘤(MM)是一种浆细胞肿瘤,其特征是存在众多染色体数目和结构异常,这对MM患者的风险分层和反应评估具有重要意义。光学基因组图谱(OGM)是一项新技术,有潜力解决许多与传统细胞遗传学方法相关的问题和局限性。迄今为止,OGM的临床效用已在癌症、生殖和胚胎发育异常等领域得到验证。在本研究中,我们首次在5例新诊断的MM患者中将OGM与传统技术进行比较,并评估OGM检测细胞遗传学异常的潜力及其在MM中的临床应用价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c26a/11078662/8fa499828e54/cjh-45-03-303-g002.jpg

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