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

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 ameloblast...

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Bibliographic Details
Published in:Cancer genetics 2012-04, Vol.205 (4), p.177-181
Main Authors: Ponti, Giovanni, Pollio, Annamaria, Mignogna, Michele Davide, Pellacani, Giovanni, Pastorino, Lorenza, Bianchi-Scarrà, Giovanna, Di Gregorio, Carmela, Magnoni, Cristina, Azzoni, Paola, Greco, Maurizio, Seidenari, Stefania
Format: Article
Language:English
Subjects:
Adult
Ameloblastoma - genetics
Ameloblastoma - pathology
Ameloblastoma - surgery
Basal Cell Nevus Syndrome - genetics
Basal Cell Nevus Syndrome - pathology
Basal Cell Nevus Syndrome - surgery
Basal cells
Gorlin syndrome
Hematology, Oncology and Palliative Medicine
Humans
keratocystic odontogenic tumors
Male
Maxillary Neoplasms - genetics
Maxillary Neoplasms - pathology
Maxillary Neoplasms - surgery
Medical Education
Mutation, Missense
Neoplasm Recurrence, Local
nevoid basal cell carcinoma syndrome
Patched Receptors
Patched-1 Receptor
Pedigree
PTCH1
Receptors, Cell Surface - genetics
Sequence Analysis, DNA
unicystic ameloblastoma
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Summary: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.
ISSN:2210-7762
2210-7770
DOI:10.1016/j.cancergen.2012.01.012