Detection of BRAFV600E mutation on papillary thyroid carcinoma and metastatic malignant melanoma by fine-needle aspiration cytology: how genetic testing may drive toward personalized medicine

Diagn Cytopathol. 2014 Oct;42(10):877-9. doi: 10.1002/dc.23060. Epub 2013 Nov 7.

Abstract

A genetic link between cutaneous melanoma and thyroid cancer (TC) has been identified. A high percentage of both melanomas and papillary carcinomas of the thyroid harbors a recurrent mutation (i.e., BRAF(V600E) ) in the BRAF oncogene. Herein, we report the case of a 65-year-old man with papillary TC and cutaneous malignant melanoma metastatic to masseter muscle, both characterized by BRAF mutation. This is one of the rare reports in which a complete molecular characterization has been performed. As the patients with papillary thyroid carcinoma have a higher risk of malignant melanoma and vice versa, continuous monitoring of such patients, with either of these tumors is necessary. Fine-needle aspiration cytology is useful as shown in the present case.

Keywords: BRAF; malignant melanoma; papillary thyroid carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Biopsy, Fine-Needle
  • Carcinoma, Papillary / diagnosis
  • Carcinoma, Papillary / genetics*
  • Carcinoma, Papillary / pathology
  • Genetic Testing
  • Humans
  • Male
  • Melanoma / diagnosis
  • Melanoma / genetics*
  • Melanoma / secondary
  • Mutation, Missense*
  • Precision Medicine
  • Proto-Oncogene Proteins B-raf / genetics*
  • Thyroid Nodule / diagnosis
  • Thyroid Nodule / genetics*
  • Thyroid Nodule / pathology

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf