• Le 06 janvier 2022
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Webinar by Jean-Baptiste Alberge, post-doctoral fellow at DANA-FARBER Cancer Institute - Boston

Bone marrow (BM) biopsy is the gold standard for diagnosis and follow-up of multiple myeloma (MM), but it is intrusive, painful, and comes with potential secondary complications for patients. Therefore, repeated assessment is not a feasible option for screening and monitoring precursor patients who are asymptomatic. We show the feasibility of characterizing circulating tumor cells (CTCs) from a noninvasive blood biopsy to accompany BM as a method of monitoring disease development. CTCs were detected in 27% of collected patients with monoclonal gammopathy of undetermined significance (MGUS), in 57% of patients with smoldering multiple myeloma (SMM), and correlated with clinical disease measurement, including the International Myeloma Working Group 2/20/20 risk stratification model. Downstream molecular characterization confirms MM-associated genetic alterations and tumor origin of CTCs. Molecular analyses of CTCs were performed in patients with matching bone marrow and clinical fluorescent in situ hybridization (FISH) results. CTCs captured 100% of the BM copy number variation (CNV) events annotated clinically by FISH. In addition, CTC samples identified additional yield, with additional CNVs identified that had not been observed by FISH. In cases that did not have BM biopsy results, sequencing of CTCs revealed the existence of genetic aberrations. Our results demonstrate the clinical correlation and molecular characterization of CTCs from patients with precursor and manifest MM. Our study lays the foundation for non-invasive detection, enumeration, and genomic interrogation of rare peripheral blood CTCs, illustrating the clinical potential of using liquid biopsies for disease monitoring and management in the precursor MM setting.