Original Title: Suivi de la maladie résiduelle mesurable par RT-qPCR des variants oncogéniques prédominants du gène NPM1 chez les personnes atteintes de leucémie myéloïde aigüe

Authors' objectives: A request to introduce a new test to the Répertoire québécois et système de mesure des procédures de biologie médicale (hereinafter referred to as the "Répertoire") was submitted to the Ministère de la Santé et des Services Sociaux (MSSS) by the Montreal Cluster – Centre hospitalier de l'Université de Montréal (CHUM). The MSSS mandated the Institut national d’excellence en santé et en services sociaux (INESSS) to evaluate the relevance of adding to the Répertoire the monitoring of measurable residual disease (MRD) by reverse transcription quantitative polymerase chain reaction (RT-qPCR) of nucleophosmin 1 (NPM1) gene variants in patients with acute myeloid leukemia (AML). The evaluation concerns the monitoring of the predominant variants of types A, B, and D in the NPM1 gene.

Authors' results and conclusions: RESULTS (#1 POPULATION DIMENSION): • AML is a rare cancer that mainly affects people aged 65 and older. Based on Canadian data, INESSS estimates that approximately 340 new cases of AML are diagnosed each year in Quebec. • The treatment of AML is primarily based on prognostic stratification into three relapse-risk groups: favorable, intermediate, or unfavorable. This risk is determined in part by the genetic characteristics of the disease. (#2 CLINICAL DIMENSION): • People with AML who have a predominant NPM1 gene variant who test negative for MRD have a lower risk of relapse and improved relapse-free survival compared to those who test positive. • People with AML carrying a predominant NPM1 gene variant who are MRDnegative have better overall survival than those who are MRD-positive. (#3 ORGANIZATIONAL DIMENSION): • While the availability of qualified personnel remains a challenge across Quebec laboratories, no other barriers were identified for the introduction of this analysis into the Répertoire. Consultations indicate that the necessary human and material resources to perform the analysis are available. (#4 SOCIOCULTURAL DIMENSION): Several learned societies recommend MRD monitoring by RT-qPCR for the predominant NPM1 variants in people with AML, to refine disease prognosis stratification and enable early detection of relapse (#5 ECONOMIC DIMENSION): If the test were to be used more broadly for all newly diagnosed people with AML harboring predominant NPM1 gene variants, costs would exceed $2.2 million over the first three years to monitor approximately 200 people (3,097 tests).

Authors' recommendations: Based on the assessment of the five dimensions of value, INESSS recommends that the Minister include in the Répertoire the test for monitoring measurable residual disease (MRD) by quantitative reverse transcription polymerase chain reaction (RT-qPCR) for the predominant NPM1 gene variant types A, B, and D in people with acute myeloid leukemia (AML) who carry these variants.

Project Status: Completed

Year Published: 2025

URL for published report: https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/suivi-de-la-maladie-residuelle-mesurable-par-rt-qpcr-des-variants-oncogeniques-predominants-du-gene-npm1-chez-les-personnes-atteintes-de-leucemie-myeloide-aiguee.html

English language abstract: An English language summary is available

Publication Type: Full HTA

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)