Researchers at the Dana-Farber Cancer Institute (DFCI) in Boston have carried out the largest genomic analysis of patients with smoldering multiple myeloma (SMM), a precursor to full-blown blood cancer that doesn't show outward symptoms. The next-generation sequencing project "will help to explain the biology of the disease and how it unfolds through time from asymptomatic stages to symptomatic ones," said Mark Bustoros, MD, a postdoctoral fellow in the lab of Irene Ghobrial, MD, at DFCI. "This research also will help us to understand which patients with SMM are at a high risk of progression, and eventually how we can target early stages of the disease, so that we don't wait to treat them until the cancer cells are spread everywhere in the body and cause major organ damage," said Dr. Bustoros, who presented results of the study at the 59th American Society of Hematology (ASH) Annual Meeting and Exposition in Atlanta (December 9-12, 2017). The title of his presentation was “Next Generation Sequencing Identifies Smoldering Multiple Myeloma Patients with a High Risk of Disease Progression” (see link below). The scientists, led by Dr. Ghobrial, sequenced 186 bone marrow biopsies from patients with SMM, some of whom progressed to multiple myeloma and some of whom did not. The scientists then matched up the genomic data with standard analyses of risks of progression provided by current non-genetic clinical biomarkers. "We found that mutations were more frequent in the high-risk group of patients with SMM," Dr. Bustoros said. "We also found that certain mutations that are known to be drivers for cancer progression were more enriched in that group." Many of the mutations were among genes in the MAPK and NF-kB molecular pathways, while others were MYC gene aberrations that are known to be altered in multiple myeloma.
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