Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome

Babette Ja Verkouteren*, Guido Mjm Roemen, Janneke Hm Schuurs-Hoeijmakers, Myrurgia Abdul Hamid, Michel van Geel, Ernst-Jan M Speel, Klara Mosterd

*Corresponding author for this work

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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 PTCH1 or SUFU 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 PTCH1 In a meningioma of a patient with a mosaic postzygotic PTCH1 mutation an association could not be conclusively confirmed. SUFU was probably not involved in the development of a thyroid carcinoma in a patient with a germline SUFU mutation. Hence, we have proven that meningioma and leiomyoma of the testis are rare extracutaneous tumours that are part of BCNS.

Original languageEnglish
Pages (from-to)345-348
Number of pages4
JournalJournal of Clinical Pathology
Issue number5
Early online date24 Aug 2022
Publication statusPublished - May 2023

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