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

Abstract

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.

Predictive genetic biomarkers for the development of peritoneal metastases in colorectal cancer

“…TSO500 is a NGS assay that enables comprehensive genomic pro ling of tumor samples. The TSO500 panel (20028216; Illumina) was used to detect mutations and identify other relative pan-cancer genes in the tumor samples, as previously described by Verkouteren et al (20). The analysis includes 523 genes for mutations (all for single nucleotide variants (SNVs)) and 59 for copy number variations (CNVs) (ampli cations, insertions, and deletions).…”