VarianThinker: a classification method to confidently approach the mutation heterogeneity in Multiple Myeloma

Abstract

Multiple Myeloma (MM) is a genomically heterogeneous malignancy, characterized by a relevant mutational burden, as compared to other types of cancer. By employing a frequentist approach to define MM driver mutation, a landscape of few variants in a limited number of genes, mostly associated to survival and/or proliferative pathways (eg. KRAS, NRAS, TP53, BRAF), have been reported so far. Nevertheless, given the high genomic heterogeneity of MM plasma cells, new possible driver mutations, being rare and/or scattered across the genome, might be diluted within the genomic complexity and therefore missed.