{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T17:46:59Z","timestamp":1774547219297,"version":"3.50.1"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2022,7,27]]},"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:p>\n                    Basal cell nevus syndrome (BCNS) is a rare genetic disorder accompanied by a broad variety of tumours, of which basal cell carcinomas and odontogenic keratocysts are the most common. BCNS is caused by a germline or postzygotic mutation in either\n                    <jats:italic>PTCH1<\/jats:italic>\n                    or\n                    <jats:italic>SUFU<\/jats:italic>\n                    . As BCNS is a rare disease, it is difficult to establish whether less frequently occurring tumours are actually part of the syndrome. In this study, the molecular mechanism behind four extracutaneous tumours in patients with BCNS was elucidated. A leiomyoma of the testis and meningioma were confirmed to be associated with BCNS in two patients by presence of a second mutation or loss of heterozygosity in\n                    <jats:italic>PTCH1<\/jats:italic>\n                    . In a meningioma of a patient with a mosaic postzygotic\n                    <jats:italic>PTCH1<\/jats:italic>\n                    mutation an association could not be conclusively confirmed.\n                    <jats:italic>SUFU<\/jats:italic>\n                    was probably not involved in the development of a thyroid carcinoma in a patient with a germline\n                    <jats:italic>SUFU<\/jats:italic>\n                    mutation. Hence, we have proven that meningioma and leiomyoma of the testis are rare extracutaneous tumours that are part of BCNS.\n                  <\/jats:p>","DOI":"10.1136\/jcp-2022-208391","type":"journal-article","created":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T13:21:42Z","timestamp":1661347302000},"page":"345-348","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome"],"prefix":"10.1136","volume":"76","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2006-6467","authenticated-orcid":false,"given":"Babette JA","family":"Verkouteren","sequence":"first","affiliation":[{"name":"Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands"},{"name":"GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido MJM","family":"Roemen","sequence":"additional","affiliation":[{"name":"GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands"},{"name":"Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janneke HM","family":"Schuurs-Hoeijmakers","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myrurgia","family":"Abdul Hamid","sequence":"additional","affiliation":[{"name":"Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"van Geel","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands"},{"name":"GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands"},{"name":"Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernst-Jan M","family":"Speel","sequence":"additional","affiliation":[{"name":"GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands"},{"name":"Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klara","family":"Mosterd","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands"},{"name":"GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The 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