Évolution du statut braf dans le melanome: mythe ou Réalité ?

Translated title of the contribution: BRAF mutation evolution in melanoma: Myth or reality?

Elicia Molines, Aurélie Haffner, Frédéric Fina, Nausicaa Malissen, L'Houcine H. Ouafik, Jean Jacques Grob, Nicolas Macagno

Research output: Contribution to journalArticlepeer-review


Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated metastatic melanoma. Although the BRAF mutation appears to be an early and driver mutation, some authors hypothesized that its expression was not stable during melanoma progression, suggesting a molecular heterogeneity. This argument is often used to explain discrepancy in molecular status among patients with melanoma, discrepancies that we occasionally met during our practice. We retrospectively compared BRAF mutational status on matched melanoma samples (primary & metastatic lesions), thus 150 samples from 56 patients were analysed through immunohistochemistry anti-BRAF, PCR-HRM and Sanger sequencing, Next Generation Sequencing (NGS) and digital PCR. Seven cases presented an apparent tumor heterogeneity. The analysis of these discrepancies by a technique of increasing sensitivity made it possible to identify 1 false-negative result for the immunohistochemistry, 1 false-negative result for the NGS sequencing and 5 (3%) false-negative results by PCR-HRM SANGER. Our results are consistent with the most recent data, demonstrating the stability of the BRAF mutation during the course of melanoma. Immunohistochemistry shows excellent sensitivity for detecting the main BRAF mutation. In our study, the mutational heterogeneity was actually misleading, a result of imperfect sensitivity of some older molecular approaches.

Translated title of the contributionBRAF mutation evolution in melanoma: Myth or reality?
Original languageFrench
Pages (from-to)113-118
Number of pages6
JournalAnnales de Pathologie
Issue number2
StatePublished - Mar 2022
Externally publishedYes


  • BRAF V600E mutation
  • Digital PCR
  • Immunohistochemistry BRAF V600E
  • Melanoma
  • Next-Generation Sequencing
  • PCR-HRM sequencing
  • Tumor heterogeneity


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