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.
- molecular biology
- skin diseases
- genetic diseases, inborn
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E-JMS and KM are joint senior authors.
Handling editor Runjan Chetty.
BJAV and GMJMR contributed equally.
Contributors BJAV and GMJMR contributed equally to this work. BJAV, JHMS-H and KM provided samples. GMJMR and MvG processed and sequenced the samples. MAH performed histopathological assessment and provided images. BJAV, GMJMR, MvG, E-JMS and KM contributed into interpreting the data, writing the manuscript and critically reviewing the manuscript. E-JMS and KM contributed equally to supervising this work.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.