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

Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Verkouteren, B. J., Roemen, G. M., Schuurs-Hoeijmakers, J. H., Abdul Hamid, M., van Geel, M., Speel, E.-J. M., Mosterd, K. Tags: Short report Source Type: research