Whole-Genome Sequencing as an Alternative to Analyze Copy Number Abnormalities in AML, MDS and MM

A recent analysis shows that shallow whole-genome sequencing (sWGS) is an accurate, convenient, and cost-effective method for discerning gene profiles of copy number aberrations (CNAs) in patients with acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and multiple myeloma (MM). The results were presented at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting.

The research team, led by Xiaodong Tao, analyzed 178 patients (89 patients with AML, 48 with MDS, and 41 with MM). They collected bone marrow, then separated mononuclear cells to harvest genomic DNA. All genome-wide CNAs greater than 5 Mbp were analyzed for each sample, the researchers noted.

According to the results, sWGS was able to identify CNA events in over of 73% of patients. Moreover, sWGS discerned amplifications of odd-numbered chromosomes in 36.6% of patients with multiple myeloma, including chromosomes 3, 5, 7, 9, 11, 15, 19, and/or 21. Furthermore, the investigators noted that sWGS improved the overall diagnostic yield in 18 patients (9 with AML and 9 with MDS).

The researchers concluded that a “streamlined sWGS provides an accurate, convenient and cost-effective approach to describe genomic profiles of CNAs in patients with AML, MDS and MM.”