Ameloblastoma as criterion for Nevoid Basal Cell Carcinoma (Gorlin) Syndrome identification

Introduction & Objectives: Ameloblastomas are considered to be aggressive and locally invasive neoplasms derived from odontogenic epithelium and with a tendency for recurrence and bone destruction. Although the relationship between NBCCS and ameloblastoma is infrequent it constitutes a peculiar stigmata of this hereditary disorder. The objective of the current study was to evaluate whether a combined clinical and biomolecular approach could be useful for the identification of NBCCS among patients with a diagnosis of ameloblastoma. Material and Methods: The authors collected ameloblastoma tumors recorded in the databases of the Pathology Departments of the University during the period 1991-2011. Family trees were drawn for 41 patients affected by these peculiar odontogenic tumors. Results: Two patients with ameloblastoma were also affected by multiple basal cell carcinoma and OKCTs, thus meeting the clinical criteria for the diagnosis of NBCCS. This was confirmed by the identification of two different novel PTCH1 germline mutations (c.2186A>T [p.K729M]; c.931insA) in those unrelated patients. Conclusions: The clinical characterization of the ameloblastoma can be used as screening for the identification of families at risk of NBCCS. Ameloblasomas diagnosis warrants the search for associated cutaneous basal cell carcinomas and other benign and malignant tumors related to NBCCS. We propose the inclusion of ameloblasoma as criterion for the identification of NBCCS.