Tracking How Multiple Myeloma Evolves by Sequencing Cell-Free DNA (cfDNA) Found in Blood

Although people with multiple myeloma usually respond well to treatment, the blood cancer generally keeps coming back. Following genetic changes in how the disease evolves over time will help tscientists/physicians to understand the disease and, eventually, deliver more effective treatments. Researchers have now successfully demonstrated techniques to track these alterations over time by analyzing cell-free DNA (cfDNA) found in blood, according to Jens Lohr, MD, PhD, a hematologist and oncologist at the Dana-Farber Cancer Institute in Boston. Traditionally, multiple myeloma progress is monitored by painful and invasive bone marrow biopsies, but those biopsies are impractical to perform repeatedly, said Dr. Lohr, who presented study results at the 59th American Society of Hematology (ASH) Annual Meeting and Exposition in Atlanta (December 9-12, 2017). The title of Dr. Lohr’s presentation was “Genomic Discovery and Clonal Tracking in Multiple Myeloma by Cell Free DNA Sequencing” (see link below). "We asked if you could get equivalent genetic information by monitoring cell-free DNA," he said. "The short answer is yes, in principle, all this information actually is in the blood." The scientists began by performing whole genome sequencing of 110 blood samples from 75 randomly selected multiple myeloma patients for cfDNA, and used the resulting data to predict the utility of deeper whole exome sequencing of the cfDNA. They also obtained cfDNA, matched normal blood cells, and bone marrow myeloma cells from ten myeloma patients at the same time point, and demonstrated that cfDNA whole exome sequencing robustly identified genetic mutations and these mutations matched up well with those found in sequencing bone marrow cells. The vast majority of clonal mutations and copy number variations in the bone marrow were also identified in cfDNA.
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