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.
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。
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