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BRAF Testing in Multifocal Papillary Thyroid Carcinoma.

Hillary Z Kimbrell1, Andrew B Sholl1, Swarnamala Ratnayaka1

  • 1Department of Pathology and Laboratory Medicine, Tulane University, 1430 Tulane Avenue SL-79, New Orleans, LA 70112, USA.

Biomed Research International
|October 9, 2015
PubMed
Summary
This summary is machine-generated.

In multifocal papillary thyroid carcinoma (PTC), the BRAF V600E mutation may be present in smaller tumors even if the largest tumor tests negative. Testing multiple tumors is recommended for accurate BRAF mutation status in PTC.

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Papillary thyroid carcinoma (PTC) with BRAF V600E mutation indicates a poor prognosis.
  • Multifocal PTC presents a challenge as testing guidelines for BRAF mutations are lacking.

Purpose of the Study:

  • To investigate the concordance of BRAF V600E mutation status in multifocal papillary thyroid carcinoma (PTC).
  • To determine if testing only the largest tumor is sufficient for BRAF mutation detection in multifocal PTC.

Main Methods:

  • Analyzed 57 PTC tumors from 27 patients using a commercial real-time PCR assay.
  • Collected data on tumor histology, patient demographics, and clinical outcomes.

Main Results:

  • BRAF V600E was the only mutation detected.
  • Mutation status was concordant in 63% of patients between the largest and second-largest tumors.
  • Discordant results were observed in 37% of patients, with 22% having a BRAF-negative largest tumor and a BRAF-positive smaller tumor.

Conclusions:

  • BRAF V600E-positive tumors can be missed if only the largest tumor in multifocal PTC is tested.
  • Consider molecular testing of multiple tumors in multifocal PTC.
  • Further research is needed to clarify the clinical significance of BRAF mutations in smaller PTC tumors.