Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome

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 t...

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Veröffentlicht in:PloS one Jg. 7; H. 8; S. e43827
Hauptverfasser: Pastorino, Lorenza, Pollio, Annamaria, Pellacani, Giovanni, Guarneri, Carmelo, Ghiorzo, Paola, Longo, Caterina, Bruno, William, Giusti, Francesca, Bassoli, Sara, Bianchi-Scarrà, Giovanna, Ruini, Cristel, Seidenari, Stefania, Tomasi, Aldo, Ponti, Giovanni
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States Public Library of Science 27.08.2012
Public Library of Science (PLoS)
Schlagworte:
Adolescent
Adult
Aged
Aged, 80 and over
Basal cell carcinoma
Basal Cell Nevus Syndrome - complications
Basal Cell Nevus Syndrome - diagnosis
Cancer
Carcinoma
Cysts
Dermatology
Diagnosis
Family medical history
Female
Females
Genetic variability
Humans
Internal medicine
Laboratories
Lesions
Male
Males
Medical diagnosis
Medicine
Middle Aged
Mutation
Odontogenic tumors
Odontogenic Tumors - complications
Odontogenic Tumors - genetics
Patched Receptors
Patched-1 Receptor
Patients
Pedigree
Proteins
Public health
Receptors, Cell Surface - genetics
Skin cancer
Surgery
Tumors
Young Adult
Italy
ISSN:1932-6203, 1932-6203
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Zusammenfassung: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.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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Competing Interests: The authors have declared that no competing interests exist.
Conceived and designed the experiments: GP AP LP. Performed the experiments: LP PG WB GBS SB. Analyzed the data: GP SS AT. Contributed reagents/materials/analysis tools: CL CG FG. Wrote the paper: GP LP AP CR.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0043827