![]() The assay technology was transferred to a clinical diagnostic laboratory and its performance was compared with existing clinical diagnostic data. A complete guidance document from laboratory methodology, capture design, bioinformatic pipeline, and analysis visualization tool has been made publicly available for others to utilize. We evaluated the current expanded and updated panel on 233 patient samples and extensively validated results using multiple comparative assays. Previous versions of this panel have been used extensively in the research setting ( 1, 26, 27, 29, 30, 33, 36–39). Here, we describe a comprehensive, cost-effective, hybridization capture-based, NGS assay panel for targeted sequencing of recurrently mutated key genes in newly diagnosed and relapsed multiple myeloma, genomic regions of CNA, translocations involving immunoglobulin (Ig) heavy and light chain loci, and MYC translocations. A more unbiased methodology is required to detect all possible rearrangements. FISH can be used to detect the t(8 14) IgH-MYC rearrangement, but this only accounts for a minority of the cases ( 27, 28). MYC rearrangements are associated with poor outcome in multiple myeloma but the presence of the rearrangements is not easy to detect, due to the complexity of rearrangements and the high number of partner loci ( 26, 27). The addition of 1q gain or amplification, and TP53 mutation have also been used to further stratify patients as high risk ( 24, 25). Together, the high-risk IgH translocations and del( TP53) are used to stratify high-risk patients according to the revised-ISS (R-ISS) criteria ( 22, 23). 21) have also been used diagnostically to detect CNAs such as del( CDKN2C) on 1p, del( TP53) on 17p, and gain/amplification of CKS1B on 1q, which are associated with poor outcome. Other technologies, such as copy number arrays ( 20), and multiplex ligation-dependent probe amplification (MLPA ref.
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