Molecular diagnostics of melanoma fine-needle aspirates: a cytology-histology correlation study

Am J Clin Pathol. 2012 Nov;138(5):670-7. doi: 10.1309/AJCPEQJW3PLOOZTC.

Abstract

Patients with advanced-stage melanoma harboring a BRAF mutation are candidates for BRAF inhibition as a therapeutic strategy. The use of fine-needle aspiration (FNA) to diagnose metastatic melanoma is increasing. Studies examining the predictive value of BRAF mutation analysis on melanoma FNAs via correlation with follow-up excision findings are lacking. We examined 37 consecutive FNA cases of metastatic melanoma in which the aspirated lesion was subsequently excised. DNA was purified from Diff-Quik-stained FNA smears and tissue blocks from corresponding excisions in parallel. BRAF mutation status was successfully obtained from both specimen types in 34 (92%) of 37 cases. BRAF mutations were detected in 12 (35%) of 34 cases-11 V600E and 1 V600K. Results of BRAF mutational analysis were concordant in all 34 FNA smear/tissue excision pairs. Thus, melanoma FNA for molecular diagnostics represents a rapid, minimally invasive, and effective management strategy in this era of precision medicine.

MeSH terms

  • Biopsy, Fine-Needle
  • DNA Mutational Analysis
  • Humans
  • Lymphatic Metastasis / diagnosis*
  • Lymphatic Metastasis / genetics
  • Lymphatic Metastasis / pathology
  • Melanoma / diagnosis*
  • Melanoma / genetics
  • Melanoma / secondary
  • Proto-Oncogene Proteins B-raf / genetics*

Substances

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