[HTML][HTML] The combination of WGS and RNA-Seq is superior to conventional diagnostic tests in multiple myeloma: Ready for prime time?

A Höllein, SO Twardziok, W Walter, S Hutter, C Baer… - Cancer genetics, 2020 - Elsevier
The diagnosis and risk stratification of multiple myeloma (MM) is based on clinical and
cytogenetic tests. Magnetic CD138 enrichment followed by interphase FISH (fluorescence in
situ hybridisation) is the gold standard to identify prognostic translocations and copy number
alterations (CNA). Although clinical implications of gene expression profiling (GEP) or panel
based sequencing results are evident, those tests have not yet reached routine clinical
application. We set up a single workflow to analyse MM of 211 patients at first diagnosis by …