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  • Testing for BRAF fusions in patients with advanced BRAF/NRAS/KIT wild-type melanomas permits to identify patients who could benefit of anti-MEK targeted therapy

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Testing for BRAF fusions in patients with advanced BRAF/NRAS/KIT wild-type melanomas permits to identify patients who could benefit of anti-MEK targeted therapy
  1. Glen Le Flahec,
  2. Manon Briolais,
  3. Briac Guibourg,
  4. Gilles Lemasson,
  5. Jean-Luc Grippari,
  6. Francoise Ledé,
  7. Pascale Marcorelles,
  8. Arnaud Uguen
  1. Department of Pathology, CHRU Brest, Brest, France
  1. Correspondence to Dr Arnaud Uguen, Pathology, CHRU Brest, Brest 29200, France; arnaud.uguen{at}chu-brest.fr

Abstract

Beyond targeted therapy for patients with BRAF-mutated melanomas and immunotherapy in patients lacking BRAF mutations, anti-MEK therapy has been proposed in patients with advanced melanomas harbouring BRAF fusions. BRAF fusions diagnosis in patients with advanced melanomas is the subject of the present study. Using BRAF fluorescent in situ hybridisation (FISH), we searched for BRAF fusions in 74 samples of 66 patients with advanced BRAF/NRAS/KIT wild-type melanomas. We identified 2/66 (3%) patients with BRAF fusions in a brain metastasis of one patient and in a lymph node metastasis and in a cutaneous metastasis for the second patient with 90%–95% of tumour nuclei containing isolated 3′-BRAF FISH signals. As a result, we conclude that BRAF FISH in patients with advanced BRAF/NRAS/KIT wild-type melanomas is a valuable and easy-to-perform test to diagnose BRAF fusions and to identify patients who could benefit of anti-MEK targeted therapy.

  • melanoma
  • BRAF
  • gene fusion
  • fluorescentin situhybridization

https://doi.org/10.1136/jclinpath-2019-206026

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    Footnotes

    • Handling editor Dhirendra Govender.

    • Contributors PM and AU designed the study. GL, J-LG and FL took part in cases selection. GLF, MB, BG and AU performed the analyses. Every authors took part in manuscript writing and have approved its final version.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Ethics approval Approval by our institutional review board (CHRU Brest, CPP n° DC – 2008–214).

    • Provenance and peer review Not commissioned; externally peer reviewed.