Efficient treatment of a metastatic melanoma patient with a combination of BRAF and MEK inhibitors based on circulating tumor DNA analysis: a case report

Gaelle Quéreux 1, 2, 3 Guillaume Herbreteau 1, 4 Anne-Chantal Knol 1, 3 Audrey Vallée 1, 4 Amir Khammari 1, 2, 3 Sandrine Théoleyre 1, 4 Mélanie Saint-Jean 1, 2, 3 Brigitte Dréno 1, 2, 3 Marc Denis 1, 4, *
* Corresponding author
1 CRCINA - Département INCIT - Equipe 2 - Clinical and translational research in skin cancer
CRCINA - Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers
2 CIC Nantes - Centre d’Investigation Clinique de Nantes
3 Laboratoire d'Immuno-Dermatologie [Nantes]
4 Service de Biochimie [CHU Nantes]
Abstract : BACKGROUND: Fixed tissues are the standard samples used in routine practice for molecular testing. But sometimes tissues are lacking or difficult to obtain. In these cases, circulating tumor DNA released from tumor cells can be used as an alternative source of tumor DNA. CASE PRESENTATION: We present the case of a 63-year-old Caucasian woman with a metastatic melanoma and a very poor performance status. A plasma sample was tested and the BRAF p.V600E mutation was detected. Based on this result, a treatment combining a BRAF inhibitor and a MEK inhibitor was immediately started. This patient achieved a complete response. In addition, by repeating the plasma test, we could obtain a precise kinetic of release of mutated BRAF DNA in plasma. CONCLUSIONS: We report here for the first time the efficient treatment of a metastatic melanoma patient on the basis of circulating tumor DNA analysis. This urgent treatment provided a dramatic response in a patient with a very poor initial condition. The kinetic data most likely reflect treatment efficacy.
Keywords : Circulating tumor DNA Case report BRAF Melanoma
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Submitted on : Tuesday, June 5, 2018 - 11:57:49 AM
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Gaelle Quéreux, Guillaume Herbreteau, Anne-Chantal Knol, Audrey Vallée, Amir Khammari, et al.. Efficient treatment of a metastatic melanoma patient with a combination of BRAF and MEK inhibitors based on circulating tumor DNA analysis: a case report. BMC Biochemistry, BioMed Central, 2017, 10 (1), pp.320. ⟨10.1186/s13104-017-2650-5⟩. ⟨inserm-01807889⟩

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