ddPCR detects KIT D816V mutations with high sensitivity in systemic mastocytosis

Cem Akin, MD, PhD, University of Michigan, Ann Arbor, MI, discusses the results of a study which investigated the limit of detection of the KIT D816V mutation by digital droplet polymerase chain reaction (ddPCR) or by next-generation sequencing (NGS) of the peripheral blood samples, in patients with indolent systemic mastocytosis. Detection of the mutation, present in around 65% of all systemic mastocytosis cases, is important to confirm the clinical diagnosis and the allelic fraction can be of prognostic use. Samples from participants of the PIONEER trial were analyzed and the results showed ddPCR to be highly sensitive, with a limit of detection of 0.02%: a 30-fold greater sensitivity over NGS which had a lower limit of detection of 1%. The results suggest a minimally invasive ddPCR assay could be used as a screening tool for mastocytosis, including in patients with a low abnormal mast cell burden. This interview took place during the 62nd American Society of Hematology (ASH) Annual Meeting and Exposition, 2020.