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

eJHaem

article

Oliver C. Lomas¹  Sarah Gooding¹  Maite Cabes¹  Helene Dreau¹  Edward Wilson¹  Paolo Polzella¹  Genomics England Research Consortium²  Karthik Ramasamy¹  Angela D. Hamblin¹ 

[1] Department of ClinicalHaematology, John Radcliffe and Churchill Hospitals, Oxford University Hospitals NHS Trust;Genomics England

DOI  :  10.1002/jha2.276

来源: Wiley

【 摘 要 】

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.

【 授权许可】

Unknown