高危多发性骨髓瘤遗传学研究进展
Advances in Genetic Research on High-Risk Multiple Myeloma
DOI: 10.12677/acm.2026.163955, PDF,   
作者: 秦心怡, 罗 云*：重庆医科大学附属第二医院血液内科，重庆
关键词: 多发性骨髓瘤；高危；细胞遗传学；分子遗传学；基因突变；Multiple Myeloma； High-Risk； Cytogenetics； Molecular Genetics； Gene Mutation
摘要: 多发性骨髓瘤(MM)是骨髓浆细胞恶性增殖性血液肿瘤，高危MM (High-risk multiple myeloma, HRMM)因早期复发、治疗抵抗而预后不良。遗传学异常是其核心特征，主要包括del (17p)、t (4; 14)、t (14; 16)、1q21扩增等染色体异常，以及TP53、RAS、NF-κB通路等基因突变。随着荧光原位杂交、二代测序技术的应用，对HRMM遗传机制认识不断深化。本文从细胞遗传学和分子遗传学层面，系统综述HRMM的染色体异常、基因突变、表观遗传学改变及信号通路异常研究进展，为精准诊断和个体化治疗提供理论依据。
Abstract: Multiple myeloma (MM) is a malignant proliferative hematologic tumor of bone marrow plasma cells. High-risk multiple myeloma (HRMM) carries a poor prognosis due to early relapse and treatment resistance. Genetic abnormalities constitute its core characteristics, primarily involving chromosomal alterations such as del (17p), t (4; 14), t (14; 16), and 1q21 amplification, alongside mutations in genes including TP53, RAS, and the NF-κB pathway. Advances in fluorescence in situ hybridization (FISH) and next-generation sequencing technologies have deepened our understanding of the genetic mechanisms underlying HRMM. This article provides a systematic review of chromosomal abnormalities, gene mutations, epigenetic alterations, and signaling pathway dysregulation in HRMM from cytogenetic and molecular genetic perspectives, offering theoretical foundations for precision diagnosis and personalized treatment.
文章引用：秦心怡, 罗云. 高危多发性骨髓瘤遗传学研究进展[J]. 临床医学进展, 2026, 16(3): 1699-1705. https://doi.org/10.12677/acm.2026.163955

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