Rashmika Beesam with Dr. Irene Ghobrial (DFCI)
Multiple myeloma is a hematological malignancy that affects the healthy plasma cells in the bone marrow of patients leading to the shortage of red blood cells (causing anemia), platelets in the blood (causing an increase in bleeding and bruising), and normal white blood cells (causing problems in fighting infections). It can also lead to kidney problems and bone problems. The earlier stages of multiple myeloma include monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). Although all the causes of multiple myeloma have yet to be discovered, there are certain genomic factors that are found to lead to an increased risk of getting this disease. Chromosomal translocations found in the bone marrow plasma cells of patients can increase the risk of developing multiple myeloma. The current detection method of this cancer uses fluorescent in situ hybridization (FISH) sequencing which locates a specific DNA sequence on a chromosome using a small probe that has a fluorescent molecule attached to it. FISH sequencing, though the golden standard for clinical testing, can miss translocations, can be inaccurate, or not give results back. The aim of this project is to use next-generation sequencing (NGS) to locate translocations and other risk factors in the bone marrow cells of multiple myeloma patients with FISH sequencing data to see if NGS can be used in the detection of multiple myeloma or to assess the risk of patients in the precursor stages who might develop this disease.