February 24, 2017

Bi-allelic inactivation is more prevalent at relapse in multiple myeloma, identifying RB1 as an independent prognostic marker

Received: 27 December 2016 | Accepted: 13 January 2017 | Published: 24 February 2017 | DOI: https://doi.org/10.1038/bcj.2017.12

Chavan SS, He J, Tytarenko R, Deshpande S, Patel P, Bailey M, Stein CK, Stephens O, Weinhold N, Petty N, Stewart D, Rasche L, Bauer M, Ashby C, Peterson EA, Ali S, Ross J, Miller VA, Stephens P, Thanendrarajan S, Schinke C, Zangari M, Rhee van F, Barlogie B, Mughal TI, Davies FE, Morgan GJ, Walker BA


The purpose of this study is to identify prognostic markers and treatment targets using a clinically certified sequencing panel in multiple myeloma. We performed targeted sequencing of 578 individuals with plasma cell neoplasms using the FoundationOne Heme panel and identified clinically relevant abnormalities and novel prognostic markers. Mutational burden was associated with maf and proliferation gene expression groups, and a high-mutational burden was associated with a poor prognosis. We identified homozygous deletions that were present in multiple myeloma within key genes…

Read more: https://www.nature.com/articles/bcj201712/