Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome

Giovanni Ponti, Annamaria Pollio, Michele Davide Mignogna, Giovanni Pellacani, Lorenza Pastorino, Giovanna Bianchi-Scarrà, Carmela Di Gregorio, Cristina Magnoni, Paola Azzoni, Maurizio Greco, Stefania Seidenari

Research output: Contribution to journalArticlepeer-review

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a very wide spectrum of clinical signs and symptoms. Here, we report an unusual case of NBCCS in a 38-year-old man with an early onset of clinical signs and symptoms and an associated unicystic ameloblastoma, histopathologically showing basaloid differentiation and intraluminal growth. The odontogenic tumor was surgically enucleated and recurred at the follow-up at 14 months. The proband and his child were identified as gene carriers of the novel K729M PTCH1 missense mutation; other first- and second-degree relatives presented clinical features of NBCCS. Only five other cases of association between ameloblastoma and NBCCS have been reported so far, suggesting that PTCH1 missense mutation might take part in the pathogenesis of keratocystic odontogenic tumors (KCOTs) as well as ameloblastomas.

Original languageEnglish
Pages (from-to)177-181
Number of pages5
JournalCancer genetics
Volume205
Issue number4
DOIs
Publication statusPublished - Apr 2012

Keywords

  • Gorlin syndrome
  • Keratocystic odontogenic tumors
  • Nevoid basal cell carcinoma syndrome
  • PTCH1
  • Unicystic ameloblastoma

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

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