Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome
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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 tumors. PTCH1 mutation can be found both in sporadic or NBCCS associated KCOTs. The aim of the cur...
متن کاملKeratocystic odontogenic tumor related to nevoid basal cell carcinoma syndrome: clinicopathological study
1 Department of Stomatology, São Paulo University, São Paulo, SP, Brazil 2 Department of Stomatology, A. C. Camargo Hospital, São Paulo, SP, Brazil 3 Department of Oncogenetics, A. C. Camargo Hospital, São Paulo, SP, Brazil 4 Department of Anatomical Pathology, A. C. Camargo Hospital, São Paulo, SP, Brazil 5 Department of Stomatology, University of São Paulo, Department of Stomatology, A. C. Ca...
متن کاملNovel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome – case report
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical ex...
متن کاملBiallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in Japanese patients with nevoid basal cell carcinoma syndrome.
The aim of the present study is to address whether the molecular pathogenesis is identical among multiple basal cell carcinomas (BCCs) present in the same nevoid basal cell carcinoma syndrome (NBCCS) patient. Patient 1 is a 61-year-old (yo) Japanese female whose clinical characteristics and findings of a genetic analysis of PTCH1 have been previously described. Patient 2 is patient 1's 64-yo si...
متن کاملThe use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome.
IMPORTANCE Keratocystic odontogenic tumors (KCOTs) of the jaw affect more than 65% of patients with basal cell nevus syndrome (BCNS). Surgery frequently causes facial disfigurement and is not always curative. Most BCNS-related and some sporadic KCOTs have malignant activation of the Hedgehog signaling pathway. OBSERVATIONS We examined the effect of vismodegib (an oral Hedgehog pathway inhibit...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2012
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0043827