Clinical evaluation of a droplet digital PCR assay for detecting POLE mutations and molecular classification of endometrial cancer.

ABSTRACT:

Objective

We evaluated droplet digital polymerase chain reaction (ddPCR) method for detecting POLE mutations in endometrial cancer (EC) and guiding its molecular classification.

Methods

We reviewed 240 EC specimens from our hospital database. A ddPCR assay was used to identify POLE mutations at 5 known hotspots (P286R, S297F, V411L, A456P, and S459F). Expressions of p53 and mismatch repair proteins were identified using immunohistochemistry.

Results

The ddPCR assay identified POLE mutations in 10.8% of patients. The most common mutation was V411L (61.54%), followed by P286R (23.07%), S459F (7.69%), S297F (3.85%), and A456P (3.85%). Eight/one cases had positive ddPCR but negative Sanger sequencing/next-generation sequencing, respectively. Molecular

SUBMITTER: Kim G 

PROVIDER: S-EPMC8899877 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature