Genomic landscape of a case of multiple myeloma by whole exome sequencing

Abstract

Multiple Myeloma (MM) is the malignancy of plasma cells that results in organ damage. These subjects diagnosed with MM are in need of new treatment strategies to improve better outcome. Whole exome sequencing (WES) was performed on the blood sample of a 47 years old male subject, diagnosed with MM in 2010. Analysis of WES data to identifying driver and passenger mutations was performed using various tools and algorithms. Analysis revealed that translocations in IGH and IGK loci found to be primary aberrations in this case. Prioritizing the screening for those genes that are known to be secondary mutations led to identification of critical tumor suppressor genes, KMT2C (MLL3), BCL2, NOTCH2 and DIS3 as driver mutations. We also identified list of mutations that indicted secondary abrasions are continually happen during clonal expansion in MM. Myeloma is individual specific and each patient is unique. Therefore, the genomic data of each case and relevant clinical feature would be important guidelines for treatment strategies.