Concomitant BRAF(V600E) mutation and RET/PTC rearrangement is a frequent occurrence in papillary thyroid carcinoma

Anna Guerra1, Pio Zeppa, Maurizio Bifulco

  • 1Department of Medicine and Surgery, University of Salerno , Baronissi, Salerno, Italy .

Abstract

Insights

BRAF mutations and RET rearrangements frequently co-occur in papillary thyroid cancer (PTC). This study found BRAF(V600E) mutations are linked to advanced tumor staging in PTC.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The MAPK pathway is crucial in thyroid cancer development.
  • Reciprocal oncogene exclusion is debated; BRAF and RET co-occurrence is possible.
  • Understanding BRAF and RET co-occurrence is key for thyroid carcinogenesis research.

Purpose of the Study:

  • Determine the prevalence of concurrent BRAF(V600E) mutations and RET/PTC rearrangements in papillary thyroid carcinomas (PTCs).
  • Investigate the association between these oncogenic events and clinicopathological features.

Main Methods:

  • Analyzed 72 conventional PTCs using pyrosequencing and Southern blot analysis.
  • Quantified BRAF mutant allele percentage and detected RET/PTC rearrangements.
  • Assessed correlations between mutation status and clinicopathological characteristics.

Main Results:

  • BRAF(V600E) mutations were found in 44.4% of PTCs.
  • RET/PTC rearrangements were present in 36.1% of PTCs.
  • Concomitant BRAF and RET/PTC alterations occurred in 19.4% of tumors; BRAF(V600E) correlated with advanced tumor stage.

Conclusions:

  • Concurrent BRAF mutation and RET/PTC rearrangement is a common occurrence in papillary thyroid carcinoma.
  • These oncogenic events may play a significant role in PTC development and progression.

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