Homo sapiens Exome. Homo sapiens

Multiple myeloma (MM) is a plasma cell malignancy characterized by patchy bone marrow infiltration and multiple lytic lesions. It could be envisioned that genomic profiling on BM biopsies may not reflect the complete genetic landscape of different clones located in distant bone marrow sites. Therefore, optimal characterization of circulating tumor cells (CTCs) may represent a non-invasive and sensitive method to capture relevant mutations present in tumor clones not evaluated in bone marrow biopsies. To this end, we first performed whole exome sequencing of CTCs and matched bone marrow clonal plasma cells obtained from 8 patients with MM in order to compare the variant profile obtained from tumor in bone marrow and CTCs. Additional CTC samples obtained from 5 patients with MM were then analyzed by whole exome sequencing without paired bone marrow tumors. Finally CTC samples obtained from 16 additional patients with MM were analyzed by deep-targeted sequencing using a custom-developed panel including frequently mutated genes in MM patients and pan-cancer driver genes.