title: Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.
abstract: Keratocystic odontogenic tumors (KCOTs) are cystic tumors that arise sporadically or associated with nevoid basal cell carcinoma syndrome (NBCCS). NBCCS is a rare autosomal dominantly inherited disease mainly characterized by multiple basal cell carcinomas, KCOTs of the jaws and a variety of other tumors. PTCH1 mutation can be found both in sporadic or NBCCS associated KCOTs. The aim of the current study was to assess whether a combined clinical and bio-molecular approach could be suitable for the detection of NBCCS among patients with a diagnosis of keratocystic odontogenic tumors (KCOTs). The authors collected keratocystic odontogenic tumors recorded in the database of the Pathology Department of the University of Modena and Reggio Emilia during the period 1991-2011. Through interviews and examinations, family pedigrees were drawn for all patients affected by these odontogenic lesions. We found out that 18 of the 70 patients with KCOTs and/or multiple basal cell carcinomas actually met the clinical criteria for the diagnosis of NBCCS. A wide inter- and intra-familial phenotypic variability was evident in the families. Ameloblastomas (AMLs) were reported in two probands that are also carriers of the PCTH1 germline mutations. Nine germline mutations in the PTCH1 gene, 5 of them novel, were evident in 14 tested probands. The clinical evaluation of the keratocystic odontogenic tumors can be used as screening for the detection of families at risk of NBCCS. Keratocystic odontogenic lesions are uncommon, and their discovery deserves the search for associated cutaneous basal cell carcinomas and other benign and malignant tumors related to NBCCS.
authors.affiliation: Department of Internal Medicine and Medical Specialties University of Genoa, Genoa, Italy.
authors.forename: Lorenza
authors.initials: L
authors.lastname: Pastorino
authors.forename: Annamaria
authors.initials: A
authors.lastname: Pollio
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pellacani
authors.forename: Carmelo
authors.initials: C
authors.lastname: Guarneri
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.forename: Caterina
authors.initials: C
authors.lastname: Longo
authors.forename: William
authors.initials: W
authors.lastname: Bruno
authors.forename: Francesca
authors.initials: F
authors.lastname: Giusti
authors.forename: Sara
authors.initials: S
authors.lastname: Bassoli
authors.forename: Giovanna
authors.initials: G
authors.lastname: Bianchi-Scarrà
authors.forename: Cristel
authors.initials: C
authors.lastname: Ruini
authors.forename: Stefania
authors.initials: S
authors.lastname: Seidenari
authors.forename: Aldo
authors.initials: A
authors.lastname: Tomasi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ponti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009808:Odontogenic Tumors / Q000150:complications* / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D055815:Young Adult
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface