Digital PCR: A Sensitive and Precise Method for KIT D816V Quantification in Mastocytosis.

ABSTRACT:

Background

The analytically sensitive detection of KIT D816V in blood and bone marrow is important for diagnosing systemic mastocytosis (SM). Additionally, precise quantification of the KIT D816V variant allele fraction (VAF) is relevant clinically because it helps to predict multilineage involvement and prognosis in cases of advanced SM. Digital PCR (dPCR) is a promising new method for sensitive detection and accurate quantification of somatic mutations.

Methods

We performed a validation study of dPCR for KIT D816V on 302 peripheral blood and bone marrow samples from 156 patients with mastocytosis for comparison with melting curve analysis after peptide nucleic acid-mediated PCR clamping (clamp-PCR) and allele-specific quantitative real-time PCR (qPCR).

SUBMITTER: Greiner G 

PROVIDER: S-EPMC7115889 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature