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

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

Oliver C Lomas  1 , Sarah Gooding  1 , Maite Cabes  1 , Helene Dreau  1 , Edward Wilson  1 , Paolo Polzella  1 ; Genomics England Research Consortium; Karthik Ramasamy  1 , Angela D Hamblin  1
Affiliations

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

Oliver C Lomas et al. EJHaem. .

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.

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Wuilleme S, Robillard N, Lode L, Magrangeas F, Beris H, Harousseau JL, et al. Ploidy, as detected by fluorescence in situ hybridization, defines different subgroups in multiple myeloma. Leukemia. 2005;19:275–78. - PubMed
    1. Chng WJ, Dispenzieri A, Chim CS, Fonseca R, Goldschmidt H, Lentzsch S, et al. IMWG consensus on risk stratification in multiple myeloma. Leukemia. 2014;28:269–77. - PubMed
    1. Kumar SK, Harrison SJ, Cavo M, de la Rubia J, Popat R, Gasparetto C, et al. 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. Lancet Oncol. 2020;21:1630–42. - PubMed
    1. Chapman MA, Lawrence MS, Keats JJ, Cibulskis K, Sougnez C, Schinzel AC, et al. Initial genome sequencing and analysis of multiple myeloma. Nature. 2011;471:467–72. - PMC - PubMed
    1. Gonzalez‐Calle V, Keane N, Braggio E, Fonseca R. Precision Medicine in Myeloma: Challenges in Defining an Actionable Approach. Clin Lymphoma Myeloma Leuk 2017;17:621–30. - PubMed

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