Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

Ponti,Giovanni; Pollio,Annamaria; Pastorino,Lorenza; Pellacani,Giovanni; Magnoni,Cristina; Nasti,Sabina; Fortuna,Giulio; Tomasi,Aldo; Bianchi Scarrà,Giovanna; Seidenari,Stefania

doi:10.3892/ol.2012.707

Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

Authors:
- Giovanni Ponti
- Annamaria Pollio
- Lorenza Pastorino
- Giovanni Pellacani
- Cristina Magnoni
- Sabina Nasti
- Giulio Fortuna
- Aldo Tomasi
- Giovanna Bianchi Scarrà
- Stefania Seidenari
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Affiliations: Department of Head and Neck Surgery, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy, Department of Odontostomatological and Maxillofacial Sciences, Oral Medicine Unit, School of Medicine and Surgery, Federico II University of Naples, Naples, Italy, Molecular Genetics Unit, University-Hospital of Genoa, Genoa, Italy, Department of Dermatology, Stanford University School of Medicine, Center for Clinical Sciences Research, Stanford, USA, Department of Laboratory, Pathological Anatomy and Forensic Medicine, University of Modena and Reggio Emilia, Modena, Italy
Published online on: May 8, 2012 https://doi.org/10.3892/ol.2012.707
Pages: 241-244

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Abstract

Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS.

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