Bodnar Saoirse, Brander Tehilla, Gold Julie, Iverson Ayuko, Lagana Alessandro, Onel Kenan, Jagannath Sundar, Parekh Samir, Thibaud Santiago
Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Semin Hematol. 2025 Feb;62(1):11-19. doi: 10.1053/j.seminhematol.2024.11.006. Epub 2024 Nov 30.
Etiological links to multiple myeloma (MM) remain poorly understood, though emerging evidence suggests a significant hereditary component. This review integrates current literature on inherited factors contributing to MM risk, synthesizing both epidemiologic and genomic data. We examine familial clustering patterns, assess genome-wide association studies (GWAS) that reveal common genetic variants linked to MM, and explore rare, high-penetrance variants in key susceptibility genes. Additionally, we advocate for routine germline screening in high-risk MM populations, particularly those with a strong family history of cancer, a personal history of cancer, or early-onset disease. By elucidating the inherited influences on MM predisposition, this review seeks to inform future research and refine risk assessment strategies in this population.
尽管新出现的证据表明多发性骨髓瘤（MM）存在显著的遗传因素，但目前对其病因学联系仍知之甚少。本综述整合了有关导致MM风险的遗传因素的现有文献，综合了流行病学和基因组数据。我们研究家族聚集模式，评估全基因组关联研究（GWAS），以揭示与MM相关的常见遗传变异，并探索关键易感基因中的罕见高外显率变异。此外，我们主张对高危MM人群进行常规种系筛查，特别是那些有强烈癌症家族史、个人癌症史或早发性疾病的人群。通过阐明遗传因素对MM易感性的影响，本综述旨在为该人群的未来研究提供信息，并完善风险评估策略。
