Li-Li Xu1, Tie-Jun Li. 1. Department of Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Abstract
OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS). METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs. PTCH2 mutations were detected by PCR-direct sequencing. RESULTS: 2 novel missence mutations(c.323 T>C,c.1319 C>T)of PTCH2 were identified and 9 polymorphisms (3 of which were novel) were determined in the present series. CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs. The pathogenetic role of these PTCH2 mutations is yet to be clarified.
OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS). METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs. PTCH2 mutations were detected by PCR-direct sequencing. RESULTS: 2 novel missence mutations(c.323 T>C,c.1319 C>T)of PTCH2 were identified and 9 polymorphisms (3 of which were novel) were determined in the present series. CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs. The pathogenetic role of these PTCH2 mutations is yet to be clarified.
Authors: Eliane Macedo Sobrinho Santos; Hércules Otacílio Santos; Ivoneth Dos Santos Dias; Sérgio Henrique Santos; Alfredo Maurício Batista de Paula; John David Feltenberger; André Luiz Sena Guimarães; Lucyana Conceição Farias Journal: Int J Mol Cell Med Date: 2016-12-06
Authors: Manfred Nilius; Jürgen Kohlhase; Johann Lorenzen; Günter Lauer; Matthias C Schulz Journal: Head Face Med Date: 2019-02-08 Impact factor: 2.151