Dr. Ip on Next-Generation Sequencing in Myeloid Neoplasms

Andrew Ip, MD, chief, Outcomes and Value Care Division, member, Division of Lymphoma, John Theurer Cancer Center, Hackensack Meridian Health, discusses the use of targeted next-generation sequencing (NGS) in detecting chromosomal structural abnormalities in patients with myeloid neoplasms.

In a study of the reliability of targeted cell-free DNA (cfDNA) NGS in predicting chromosomal abnormalities in patients with myeloid neoplasms, Ip and colleagues found that liquid biopsy with targeted NGS is an accurate way to detect chromosomal structural abnormalities in myeloid neoplasms when compared with samples from bone marrow biopsies. When classified by prognostic classes, the investigators observed a 100% concordance in cytogenetic abnormalities between cfDNA NGS data and cytogenetic data.

This study looked at copy number variation, or cytogenetic differences, in the blood samples, with the goal of risk stratifying patients to understand whether peripheral blood tests can replace more invasive testing, Ip says. Findings showed that cfDNA-targeted NGS was sensitive enough to identify myeloid neoplasms and lymphoid neoplasms in many patients, Ip explains.

An important limitation of DNA mutation testing is that it doesn’t detect some rare isolated chromosomal abnormalities, Ip notes. In this study, for instance, deletion 5q, a mutation that does not appear on a broad NGS panel, was not detected with cfDNA-targeted NGS, Ip says. However, most patients being tested for myelodysplastic syndrome will have a molecular mutation profile that NGS testing can detect, Ip concludes.