{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T23:07:37Z","timestamp":1775603257508,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,3]],"date-time":"2013-05-03T00:00:00Z","timestamp":1367539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2013,12]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Phaeochromocytoma (PCC<\/jats:styled-content>) and paraganglioma (PGL<\/jats:styled-content>) can occur sporadically or as a part of familial cancer syndromes. Red flags of hereditary syndromes are young age and multifocal tumours. We hypothesized that such patients are candidates for further molecular diagnosis in case of normal results in \u2018classical\u2019 genes.<\/jats:p><\/jats:sec>Material and methods<\/jats:title>We selected patients with PCC<\/jats:styled-content>\/PGL<\/jats:styled-content> under the age of 40 and\/or with multiple tumours. First, we tested the genes RET<\/jats:styled-content>, VHL<\/jats:styled-content>, NF<\/jats:styled-content>1, SDHB<\/jats:styled-content>, SDHC<\/jats:styled-content><\/jats:italic> and SDHD<\/jats:styled-content><\/jats:italic>. Patients without mutations in these genes were tested for mutations in MAX<\/jats:styled-content><\/jats:italic>, TMEM<\/jats:styled-content>127<\/jats:italic> and SDHAF<\/jats:styled-content>2<\/jats:italic>.<\/jats:p><\/jats:sec>Results<\/jats:title>In 153 patients included, mutations were detected in the classical genes in 72 patients (47%) [RET<\/jats:styled-content><\/jats:italic>\u201022 (14%), VHL<\/jats:styled-content><\/jats:italic>\u201013 (9%), NF<\/jats:styled-content>1<\/jats:italic>\u20103 (2%), SDHB<\/jats:styled-content><\/jats:italic>\u201013 (9%), SDHC<\/jats:styled-content><\/jats:italic>\u20103 (2%), SDHD<\/jats:styled-content><\/jats:italic>\u201016 (11%), SDHB<\/jats:styled-content><\/jats:italic> large deletions\u2013 2 (1%)]. One patient with MAX<\/jats:styled-content><\/jats:italic>c.223C>T (p.R75X) mutation was detected. It was a male with bilateral, metachronous phaeochromocytomas diagnosed in 36 and 40\u00a0years of age. Remarkably, he showed in the period before the MAX<\/jats:styled-content><\/jats:italic> gene was detected, a RET<\/jats:styled-content><\/jats:italic> p. Y<\/jats:styled-content>791F<\/jats:styled-content> variant. During 10\u2010year follow\u2010up, we did not find any thyroid abnormalities. LOH<\/jats:styled-content> examination of tumour tissue showed somatic loss of the wild\u2010type allele of MAX<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Analysis of the MAX<\/jats:styled-content><\/jats:italic> gene should be performed in selected patients, especially those with bilateral adrenal phaeochromocytoma in whom mutations of the classical genes are absent. Our study provides with further support that Y<\/jats:styled-content>791F <\/jats:styled-content>RET<\/jats:styled-content><\/jats:italic> is a polymorphism.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12218","type":"journal-article","created":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T07:24:42Z","timestamp":1364801082000},"page":"817-823","source":"Crossref","is-referenced-by-count":34,"title":["Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma\/paraganglioma patients with clinical characteristics of hereditary syndromes"],"prefix":"10.1111","volume":"79","author":[{"given":"Mariola","family":"P\u0119czkowska","sequence":"first","affiliation":[{"name":"Department of Hypertension Institute of Cardiology Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldona","family":"Kowalska","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Nuclear Medicine Holycross Cancer Center Kielce Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek","family":"Sygut","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cancer Biology Holycross Cancer Center Kielce Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Walig\u00f3rski","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Nuclear Medicine Holycross Cancer Center Kielce Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelica","family":"Malinoc","sequence":"additional","affiliation":[{"name":"Department of Nephrology Section of Preventive Medicine Albert\u2010Ludwigs\u2010University of Freiburg Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Janaszek\u2010Sitkowska","sequence":"additional","affiliation":[{"name":"Department of Hypertension Institute of Cardiology Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksander","family":"Prejbisz","sequence":"additional","affiliation":[{"name":"Department of Hypertension Institute of Cardiology Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej","family":"Januszewicz","sequence":"additional","affiliation":[{"name":"Department of Hypertension Institute of Cardiology Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut P. 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