Original Title: Biomarqueurs tumoraux liés à la prise en charge des personnes atteintes d’un cholangiocarcinome

Authors' objectives: Cancer represents a group of complex pathologies marked by profound heterogeneity. Beyond the different tumor sites and disease stages, each tumor displays a set of characteristics that distinguish it from others at the pathological/cellular/molecular levels. Tumor biomarkers come in a variety of forms (DNA, RNA, proteins) and lay the foundations for the concept of personalized (or precision) medicine. In oncology, personalized medicine makes it possible, based on the molecular profile of a given tumor, to refine diagnosis, evaluate prognosis, and adapt therapeutic decisions to increase the likelihood of treatment efficacy and/or mitigate adverse events. 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 a number of 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 Programme québécois de cancérologie (PQC) and the Direction de la biovigilance et de la biologie médicale (DBBM) to compile a list of useful biomarkers to guide the management of people with various types of solid tumors, including cholangiocarcinoma.

Authors' results and conclusions: RESULTS: A total of 19 publications were selected. Biomarkers recommended by expert panels/professional organizations are all predictive and include various types of alterations in IDH1, BRAF, FGFR2, NTRK, RET and HER2 genes, high microsatellite instability (MSI-H), mismatch repair defects (dMMR) and high tumor mutational burden (TMB-H). CONCLUSION: There are several tumor biomarkers associated with the management of individuals with cholangiocarcinoma. However, biomarkers recommended from cited publications are of limited use in the current context of Quebec practice due to their association with drugs that are not approved in Canada, are approved for other indications, or have been refused listing for the indication under consideration. According to the experts consulted, information provided by biomarker testing would be useful for the management of people with cholangiocarcinoma, as it would contribute to a better characterization of the disease and enable a certain number of patients to benefit from various drug access programs or to be directed towards the appropriate clinical studies. 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 cholangiocarcinoma or solid tumors targeted by an agnostic therapeutic approach (indirectly including cholangiocarcinoma). 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: 2024

URL for published report: 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

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)