Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.
J Clin Pathol
; 76(5): 345-348, 2023 May.
Article
em En
| MEDLINE
| ID: mdl-36002246
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.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Carcinoma Basocelular
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Síndrome do Nevo Basocelular
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Leiomioma
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Neoplasias Meníngeas
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Meningioma
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article