Year: 2014
Type: article
Study design: Observational Study
Abstract: Recent work has delineated mutational profiles in multiple myeloma and reported a median of 52 mutations per patient, as well as a set of commonly mutated genes across multiple patients. In this study, we have used deep sequencing of RNA from a subset of these patients to evaluate the proportion of expressed mutations. We find that the majority of previously identified mutations occur within genes with very low or no detectable expression. On average, 27% (range, 11% to 47%) of mutated alleles are found to be expressed, and among mutated genes that are expressed, there often is allele-specific expression where either the mutant or wild-type allele is suppressed. Even in the absence of an overall change in gene expression, the presence of differential allelic expression within malignant cells highlights the important contribution of RNA-sequencing in identifying clinically significant mutational changes relevant to our understanding of myeloma biology and also for therapeutic applications.
Source: Blood
Authors: Naim U. Rashid, Adam S. Sperling, Niccolo Bolli, David C. Wedge, Peter Van Loo, Yu-Tzu Tai, Masood A. Shammas, Mariateresa Fulciniti, Mehmet K. Samur, Paul G. Richardson, Florence Magrangeas, Stephane Minvielle, P. Andrew Futreal, Kenneth C. Anderson, Herve Avet-Loiseau, Peter J. Campbell, Giovanni Parmigiani, Nikhil C. Munshi
Institutions: Harvard University, Dana-Farber Cancer Institute, Dana-Farber/Harvard Cancer Center, University of Cambridge, Wellcome Sanger Institute, Vlaams Instituut voor Biotechnologie, KU Leuven, VA Boston Healthcare System, Centre National de la Recherche Scientifique, Inserm, Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes Angers, Nantes Université, The University of Texas MD Anderson Cancer Center, Centre Hospitalier Universitaire de Toulouse, Centre de Recherches en Cancérologie de Toulouse, Hôpital Rangueil
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: G103483494, G2132831713, Telomerase And Homologous Recombination As Targets In Barrett's Adenocarcinoma, G3153653679, G3668218448, SPORE in Multiple Myeloma, CHARACTERISATION AND ANALYSIS OF CANCER GENOMES USING NEXT GENERATION SEQUENCING TECHNOLOGIES., G800922982, G8709045766, Integrative Oncogenomics of Multiple Myeloma
OpenAlex ID: W1990937098