{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T22:38:35Z","timestamp":1788388715759,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T00:00:00Z","timestamp":1636329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Pheochromocytomas (PHEOs) and paragangliomas (PGLs), collectively known as PPGLs, are tumours with high heritability. The prevalence of germline mutations in apparently sporadic PPGLs varies depending on the study population. The objective of this study was to determine the spectrum of germline mutations in a cohort of patients with apparently sporadic PPGLs over time.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>We performed a retrospective review of patients with apparently sporadic PPGLs who underwent genetic testing at our referral centre from 2005 to 2020.<\/jats:p><jats:p><jats:bold>Patients:<\/jats:bold> We included patients with apparently sporadic PPGLs who underwent genetic testing at our referral center.<\/jats:p><jats:p><jats:bold>Measurements:<\/jats:bold> Genetic analysis included sequential gene sequencing by Sanger method or next generation sequencing (NGS) with a multigene panel.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The prevalence of germline mutations was 26.2% (43\/164); 40.0% (30\/75) in PGLs and 14.6% (13\/89) in PHEOs. We identified four novel pathogenic variants (two <jats:italic>SDHB<\/jats:italic> and two <jats:italic>SDHD<\/jats:italic>). Patients carrying germline mutations were younger (38.7 vs. 49.7 years old) than patients with no identified germline mutations. From 2015 to 2020, we performed NGS with a multigene panel on 12 patients for whom the initial genetic analysis was negative. Germline mutations in previously untested genes were found in four (33.3%) of these patients (two <jats:italic>MAX<\/jats:italic> and two <jats:italic>SDHA<\/jats:italic>), representing 9.3% (4\/43) of the mutation carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The prevalence of germline mutations in our cohort of patients with apparently sporadic PPGLs was 26.2%. Genetic re\u2010evaluation over time using multigene sequencing by NGS assay in a subgroup of patients leads to an increase in the detection of mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14618","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T06:30:00Z","timestamp":1636439400000},"page":"803-811","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time"],"prefix":"10.1111","volume":"96","author":[{"given":"St\u00e9fanie","family":"Parisien\u2010La Salle","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Medicine Centre de recherche du Centre hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM) Montreal Quebec 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