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Tracking Multiple Myeloma by low-pass sequencing of circulating cell free DNA

Due to its genetic complexity and the difficulty to separate aberrant plasma cells from samples, one malignancy that has consistently represented a challenge to track is Multiple Myeloma (MM). This malignancy has shown to be highly variable, with the appearance of several clones during the evolution from a monoclonal gammopathy of undetermined significance (MGUS) to plasma cell leukemia, causing an additional difficulty during treatment of individuals. These clones have been detected by cytogenetic techniques such as metaphasic analysis and interphase FISH. The most common modifications for MM include chromosomal aberrations such as translocations involving chromosome 14 (IGH), loss of chromosome 17 (p53), or gain of information in the long arm of chromosome 1. Identifying the clones present in a tumor is critical for establishing correct treatment, but the technical difficulties associated with MM samples motivate the search for complementary tools to characterize the malignancy in patients. In other types of malignancy, cell free DNA has previously been shown to be effective in establishing tumor burden in patients. This promising novel technique allows to monitor the evolution of the disease, progression kinetics and treatment response. The current project intends to apply Low-Pass sequencing of cell-free DNA to detect, characterize and monitor different aberrations and allow tracking of the disease in patients suffering from MM.

Date:1 Mar 2019 →  Today
Keywords:Multiple Myeloma, cfDNA, Cancer, Malignancy, Low-Pass Sequencing
Disciplines:Clinical genetics and molecular diagnostics, Cancer diagnosis, Genetics
Project type:PhD project