Original Title: Biomarqueurs tumoraux liés à la prise en charge des personnes atteintes d’un mélanome cutané de stade avancé

Authors' objectives: Laboratory techniques commonly used to reveal the presence of tumor biomarkers include polymerase chain reaction (PCR) amplification, first-generation sequencing (Sanger method), immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). Next-generation sequencing (NGS) is a more recent method that provides gene panelbased analysis of different combinations of target sequences in a variety of genes associated with several pathological conditions, including cancer. As such, NGS has the potential to replace several laboratory analyses, which are currently performed independently. The added value of introducing a given sequencing gene panel partly relies on the proportion of target sequences included in the gene panel that are useful for the management of individuals with a particular disease. With the aim of promoting the judicious use of this type of analysis and to standardize patient care, INESSS has been mandated by the Direction cancérologie (DC) to compile a list of useful biomarkers to guide the management of people with various types of solid tumors, including advanced cutaneous melanoma.

Authors' results and conclusions: RESULTS: A total of 9 publications were selected. The biomarker recommended by expert panels/professional organizations is predictive and include various types of alterations in BRAF gene, mostly the V600 mutations. CONCLUSION: There are some tumor biomarkers associated with the management of individuals with advanced cutaneous melanoma. The biomarker recommended in the publications identified and has predictive value is BRAFV600. It’s associated with treatments available in Quebec and have been approved and assessed by various organizations for the treatment of this cancer. According to the experts consulted, information provided by biomarker testing would be useful for the management of people with advanced cutaneous melanoma, as it contributes to a better characterization of the disease and enables a certain number of patients to benefit from it. To find clinical trials underway in Quebec, readers are invited to consult the Registre public des essais cliniques du Québec.

Authors' methods: An exhaustive literature review (practice guidelines and expert consensus) was conducted to identify tumor biomarkers recommended for the management of advanced cutaneous melanoma or solid tumors targeted by an agnostic therapeutic approach (indirectly including cutaneous melanoma). Evidence supporting recommendations from cited organizations was extracted from published primary studies to document the magnitude of benefit derived from the decision to personalize management according to the biomarker detected. Information pertaining to approval and listing status of drugs associated with predictive biomarkers was collected to determine the value of testing for these biomarkers in the current context of Quebec practice.

Project Status: Completed

URL for project: https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/biomarqueurs-tumoraux-lies-a-la-prise-en-charge-des-personnes-atteintes-dune-tumeur-solide.html

Year Published: 2025

URL for published report: https://www.inesss.qc.ca/fileadmin/doc/INESSS/Rapports/Oncologie/Biomarqueurs_Melanome_cutane_EC_INESSS.pdf

English language abstract: An English language summary is available

Publication Type: Other

Country: Canada

Province: Quebec

Organisation Name: Institut national d'excellence en sante et en services sociaux

Contact Address: L'Institut national d'excellence en sante et en services sociaux (INESSS) , 2021, avenue Union, bureau 10.083, Montreal, Quebec, Canada, H3A 2S9;Tel: 1+514-873-2563, Fax: 1+514-873-1369

Contact Name: demande@inesss.qc.ca

Contact Email: demande@inesss.qc.ca

Copyright: L'Institut national d'excellence en sante et en services sociaux (INESSS)