Quantification of the Mutant Allelic Burden by Digital PCR

With the recent discovery of CALR mutations, >80% of patients with myeloproliferative neoplasms carry a phenotype-driving mutation. For JAK2 V617F, the most frequent mutation in myeloproliferative neoplasms, accurate determination of mutational loads is of interest at diagnosis, for phenotypic and prognostic purposes, and during follow-up for minimal residual disease assessment. We developed a digital PCR technique that allowed the accurate determination of CALR allelic burdens for the main mutations (types 1 and 2).

Source: Journal of Molecular Diagnostics - November 17, 2015 Category: Pathology Authors: Olivier Mansier, Marina Migeon, Arnaud Saint-Lézer, Chloé James, Emmanuelle Verger, Marie Robin, Gérard Socié, Audrey Bidet, François-Xavier Mahon, Bruno Cassinat, Eric Lippert Tags: Regular Article Source Type: research