Zhang Yu-Qi, Jing Hong-Mei
Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2025 Apr;33(2):612-615. doi: 10.19746/j.cnki.issn.1009-2137.2025.02.046.
Extramedullary disease (EMD) is an independent prognostic factor for multiple myeloma (MM). Compared with MM without EMD, MM with EMD has different genetic characteristics, with a higher incidence of high-risk chromosomal abnormalities, more complex genomic profile, and immunophenotypic features related to adhesion molecule and chemokine expression. The mutual regulation between myeloma cells and tumor microenvironment, including changes in immune environment, deposition of extracellular matrix, abnormal expression of adhesion molecules, and autocrine secretion of myeloma cells, is involved in the extramedullary migration of myeloma cells. Various immune-targeted therapies have improved the prognosis of extramedullary MM (EMM). This article reviews the genetic characteristics of EMM, important role of tumor microenvironment, and progress of treatment.
髓外疾病（EMD）是多发性骨髓瘤（MM）的一个独立预后因素。与无EMD的MM相比，有EMD的MM具有不同的遗传学特征，高危染色体异常发生率更高，基因组图谱更复杂，以及与黏附分子和趋化因子表达相关的免疫表型特征。骨髓瘤细胞与肿瘤微环境之间的相互调节，包括免疫环境的变化、细胞外基质的沉积、黏附分子的异常表达以及骨髓瘤细胞的自分泌，参与了骨髓瘤细胞的髓外迁移。各种免疫靶向治疗改善了髓外MM（EMM）的预后。本文综述了EMM的遗传学特征、肿瘤微环境的重要作用以及治疗进展。
