Analytic and clinical validity of thyroid nodule mutational profiling using droplet digital polymerase chain reaction.

ABSTRACT:

Background

Recent guidelines for the management of thyroid nodules incorporate mutation testing as an adjunct for surgical decision-making, however current tests are costly with limited accuracy. Droplet digital PCR (ddPCR) is an ultrasensitive method of nucleic acid detection that is particularly useful for identifying gene mutations. This study aimed to assess the analytic and clinical validity of RAS and BRAF ddPCR mutational testing as a diagnostic tool for thyroid fine needle aspirate biopsy (FNAB).

Methods

Patients with thyroid nodules meeting indication for FNAB were prospectively enrolled from March 2015 to September 2017. In addition to clinical protocol, an additional FNAB was obtained for ddPCR. Optimized ddPCR probes were used to detect mutations including HRASG1

SUBMITTER: Biron VL 

PROVIDER: S-EPMC6154415 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature