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本文引用的文献

1
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.多发性骨髓瘤的风险和结局与 DNA 修复基因中的致病性种系变异有关。
Blood Cancer Discov. 2024 Nov 1;5(6):428-441. doi: 10.1158/2643-3230.BCD-23-0208.
2
Deciphering the genetics and mechanisms of predisposition to multiple myeloma.解析多发性骨髓瘤易感性的遗传学和机制。
Nat Commun. 2024 Aug 5;15(1):6644. doi: 10.1038/s41467-024-50932-7.
3
Monosomic loss of MIR15A/MIR16-1 is a driver of multiple myeloma proliferation and disease progression.单体性缺失 MIR15A/MIR16-1 是多发性骨髓瘤增殖和疾病进展的驱动因素。
Blood Cancer Discov. 2020 Jul;1(1):68-81. doi: 10.1158/0008-5472.BCD-19-0068.
4
Therapeutic implications of germline genetic findings in cancer.癌症种系遗传发现的治疗意义。
Nat Rev Clin Oncol. 2019 Jun;16(6):386-396. doi: 10.1038/s41571-019-0179-3.
5
Pathogenic Germline Variants in 10,389 Adult Cancers.10389 例成年癌症中的致病变异体种系变异。
Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
6
The genetic architecture of multiple myeloma.多发性骨髓瘤的遗传结构。
Nat Rev Cancer. 2012 Apr 12;12(5):335-48. doi: 10.1038/nrc3257.
7
Initial genome sequencing and analysis of multiple myeloma.多发性骨髓瘤的初始基因组测序和分析。
Nature. 2011 Mar 24;471(7339):467-72. doi: 10.1038/nature09837.
8
Deletion of the retinoblastoma gene in multiple myeloma.多发性骨髓瘤中视网膜母细胞瘤基因的缺失。
Leukemia. 1994 Aug;8(8):1280-4.
9
Mutation and cancer: statistical study of retinoblastoma.突变与癌症：视网膜母细胞瘤的统计学研究
Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3. doi: 10.1073/pnas.68.4.820.

胚系变异在多发性骨髓瘤中的作用？

A Role for Germline Variants in Multiple Myeloma?

机构信息

Division of Hematology Oncology, Melvin and Bren Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianapolis, Indiana.

出版信息

Blood Cancer Discov. 2024 Nov 1;5(6):375-376. doi: 10.1158/2643-3230.BCD-24-0226.

DOI:10.1158/2643-3230.BCD-24-0226
PMID:39283233
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11528183/
Abstract

In Blood Cancer Discovery, Thibaud and colleagues report the incidence of pathogenic germline variants (PGV) in patients with multiple myeloma and that these PGVs are associated with DNA repair pathway genes, including BRCA1 and BRCA2. They find an association of patients with PGVs and previous family or personal history of cancer, and that these patients are diagnosed slightly earlier than those without PGVs. Patients with PGVs had a longer progression-free survival than those without PGVs when they received high-dose melphalan and autologous stem cell transplant, providing a therapeutic rationale for diagnostic germline testing in myeloma. See related article by Thibaud et al., p. 428.

摘要

在血液癌症研究中，Thibaud 及其同事报告了多发性骨髓瘤患者中致病性种系变异（PGV）的发生率，并且这些 PGV 与 DNA 修复途径基因相关，包括 BRCA1 和 BRCA2。他们发现 PGV 患者与癌症家族史或个人病史有关，并且这些患者的诊断时间比没有 PGV 的患者稍早。在接受高剂量美法仑和自体干细胞移植时，PGV 患者的无进展生存期长于无 PGV 患者，为多发性骨髓瘤的种系检测提供了治疗依据。见 Thibaud 等人的相关文章，第 428 页。