Digital Droplet Pcr: Next Generation Kit D816v Testing As Advanced Tool For Diagnosis And Prognostication In Mastocytosis

Background: The somatic mutation KIT D816V is a diagnostic criterion for systemic mastocytosis (SM) and can be found in the majority of patients. Therefore, sensitive detection of KIT D816V in blood and bone marrow (BM) is important for diagnosis of SM. Additionally, precise quantification of the KIT D816V allele burden is relevant clinically as it helps to predict multilineage involvement and prognosis in advanced SM and might be useful as a biomarker for treatment response to midostaurin or other interventional drugs. However, despite the high relevance of reliable KIT D816V allele burden measurement, no single assay for the detection and quantification of the KIT mutation has been accepted as a global standard. In addition, differences in calibration material and data normalization hamper the standardization of KIT D816V quantification and complicate the comparison of results obtained in different study groups. Digital droplet PCR (ddPCR) is a promising new method for sensitive detection and accurate quantification of somatic mutations.