Liquid Biopsy Effective at Finding Gene Alterations in Patients with Myeloid Neoplasms

Liquid biopsy (LB) serves as a robust tool for identifying genetic alterations in patients with myeloid neoplasms, according to a study presented at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting.

In this retrospective study, Douglas A. Mata and colleagues collated LB samples from 48,459 unique samples submitted for comprehensive genomic profiling (CGP). The population of interest had histiocytic neoplasms (HNs), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), or acute myeloid leukemia (AML). In the full study group, 83 patients had myeloid neoplasms: 34 HN, 23 MDS, 15 MPN, and 11 AML.

The results showed that reportable genetic alterations were detected in almost 63% of patients. Specifically, the researchers observed that LB identified pathogenic alterations at a rate of 31% in BRAF, 12.5% in NF1, 6.3% in MAP2K1, and 6.3% in NRAS, and detected VAFs as low as 0.21%, 0.13%, 0.11%, and 4.0%, respectively.

“LB identified clinically relevant genomic alterations in myeloid neoplasia, offering a powerful tool that may be used pre- or post-treatment when CGP of the buffy coat, marrow, or tissue is infeasible,” the researchers concluded. “Given its low limit of detection, LB can also identify low-level emerging or persistent subclones, which may facilitate monitoring and minimal residual disease testing.”