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本文引用的文献

1
The Prognostic Role of MYC Structural Variants Identified by NGS and FISH in Multiple Myeloma.通过 NGS 和 FISH 鉴定的 MYC 结构变异在多发性骨髓瘤中的预后作用。
Clin Cancer Res. 2021 Oct 1;27(19):5430-5439. doi: 10.1158/1078-0432.CCR-21-0005.
2
Multiple cereblon genetic changes are associated with acquired resistance to lenalidomide or pomalidomide in multiple myeloma.多发性骨髓瘤患者对来那度胺或泊马度胺获得性耐药与多个 cereblon 基因突变相关。
Blood. 2021 Jan 14;137(2):232-237. doi: 10.1182/blood.2020007081.
3
Venetoclax or placebo in combination with bortezomib and dexamethasone in patients with relapsed or refractory multiple myeloma (BELLINI): a randomised, double-blind, multicentre, phase 3 trial.维奈托克或安慰剂联合硼替佐米和地塞米松治疗复发或难治性多发性骨髓瘤患者（BELLINI）：一项随机、双盲、多中心、3 期临床试验。
Lancet Oncol. 2020 Dec;21(12):1630-1642. doi: 10.1016/S1470-2045(20)30525-8. Epub 2020 Oct 29.
4
Precision Medicine in Myeloma: Challenges in Defining an Actionable Approach.多发性骨髓瘤的精准医学：定义可行方法面临的挑战
Clin Lymphoma Myeloma Leuk. 2017 Oct;17(10):621-630. doi: 10.1016/j.clml.2017.06.021. Epub 2017 Jun 23.
5
The Role of Minimal Residual Disease Testing in Myeloma Treatment Selection and Drug Development: Current Value and Future Applications.微小残留病灶检测在多发性骨髓瘤治疗选择和药物研发中的作用：当前价值与未来应用。
Clin Cancer Res. 2017 Aug 1;23(15):3980-3993. doi: 10.1158/1078-0432.CCR-16-2895. Epub 2017 Apr 20.
6
Translocations at 8q24 juxtapose MYC with genes that harbor superenhancers resulting in overexpression and poor prognosis in myeloma patients.8q24 易位使 MYC 与含有超级增强子的基因并列，导致骨髓瘤患者过度表达和预后不良。
Blood Cancer J. 2014 Mar 14;4(3):e191. doi: 10.1038/bcj.2014.13.
7
Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.多发性骨髓瘤的广泛遗传异质性：对靶向治疗的影响。
Cancer Cell. 2014 Jan 13;25(1):91-101. doi: 10.1016/j.ccr.2013.12.015.
8
IMWG consensus on risk stratification in multiple myeloma.IMWG 共识：多发性骨髓瘤的风险分层。
Leukemia. 2014 Feb;28(2):269-77. doi: 10.1038/leu.2013.247. Epub 2013 Aug 26.
9
Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival.多发性骨髓瘤中 1p 缺失的图谱分析表明，1p12 上的 FAM46C 和 1p32.3 上的 CDKN2C 是与不良预后相关区域的基因。
Clin Cancer Res. 2011 Dec 15;17(24):7776-84. doi: 10.1158/1078-0432.CCR-11-1791. Epub 2011 Oct 12.
10
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.

临床级全基因组测序的验证重现了细胞遗传学分析并鉴定了新诊断的多发性骨髓瘤患者的突变图谱：来自“十万基因组计划”的一项初步研究。

Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project.

作者信息

Lomas Oliver C, Gooding Sarah, Cabes Maite, Dreau Helene, Wilson Edward, Polzella Paolo, Ramasamy Karthik, Hamblin Angela D

机构信息

Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK.

出版信息

EJHaem. 2021 Aug 26;2(4):809-812. doi: 10.1002/jha2.276. eCollection 2021 Nov.

DOI:10.1002/jha2.276
PMID:35845211
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9175844/
Abstract

Multiple myeloma is characterized by chromosomal abnormalities and genetic variation, which may inform prognosis and guide treatment. This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients with newly diagnosed multiple myeloma who had enrolled in the 100,000 Genomes Project. In all 14 cases, WGS data could be obtained in a timely fashion within existing clinical frameworks in a tertiary hospital setting. The data not only replicated standard-of-care FISH analysis of chromosomal abnormalities but also provided further chromosomal and molecular genetic insights that may influence patient management.

摘要

多发性骨髓瘤的特征是染色体异常和基因变异，这可能为预后提供信息并指导治疗。这项初步研究旨在检验在对参与“10万个基因组计划”的14例新诊断多发性骨髓瘤患者进行常规实验室评估的同时纳入全基因组测序（WGS）的可行性。在所有14例病例中，在三级医院环境下的现有临床框架内能够及时获得WGS数据。这些数据不仅重复了染色体异常的标准护理荧光原位杂交（FISH）分析，还提供了可能影响患者管理的进一步染色体和分子遗传学见解。