Kei Sakamoto1, Kei-Ichi Morita2, Yasuyuki Shimada3, Ken Omura3, Toshiyuki Izumo4, Akira Yamaguchi5. 1. Section of Oral Pathology, Tokyo Medical and Dental University, Tokyo, Japan. 2. Department of Advanced Molecular Diagnosis and Maxillofacial Surgery, Hard Tissue Genome Research Center, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address: keiichi.m.osur@tmd.ac.jp. 3. Oral and Maxillofacial Surgery, Department of Oral Restitution, Division of Oral Health Sciences, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan; Global Center of Excellence (GCOE) Program, International Research Center for Molecular Science in Tooth and Bone Diseases, Tokyo Medical and Dental University, Tokyo, Japan. 4. Section of Diagnostic Oral Pathology, Tokyo Medical and Dental University, Tokyo, Japan. 5. Section of Oral Pathology, Tokyo Medical and Dental University, Tokyo, Japan; Global Center of Excellence (GCOE) Program, International Research Center for Molecular Science in Tooth and Bone Diseases, Tokyo Medical and Dental University, Tokyo, Japan.
Abstract
OBJECTIVE: Peripheral odontogenic keratocyst (POKC) is a rare gingival cyst showing histologic features identical to those of keratocystic odontogenic tumor. A rare case of POKC associated with nevoid basal cell carcinoma syndrome (NBCCS) is presented. STUDY DESIGN: A 24-year-old woman with NBCCS presented with a pigmented papule, 3 mm in size, involving the lingual gingiva of the right canine area of the mandible. Based on a clinical diagnosis of benign pigmentation, an excisional biopsy was performed, and a histopathologic diagnosis of POKC was rendered. RESULTS: The lining cells were positive for the proteins GLI2, BCL2, keratin 8, keratin 17, and mTOR. TP53 and Ber-EP4 were also weakly positive. Gene mutational analysis on a buccal swab sample revealed 2 missense mutations in the PTCH1 gene. CONCLUSIONS: This case is a distinctive example of a genuine soft tissue counterpart of keratocystic odontogenic tumor, in which an aberrant PTCH1-GLI pathway played a considerable role in the pathogenesis.
OBJECTIVE: Peripheral odontogenic keratocyst (POKC) is a rare gingival cyst showing histologic features identical to those of keratocystic odontogenic tumor. A rare case of POKC associated with nevoid basal cell carcinoma syndrome (NBCCS) is presented. STUDY DESIGN: A 24-year-old woman with NBCCS presented with a pigmented papule, 3 mm in size, involving the lingual gingiva of the right canine area of the mandible. Based on a clinical diagnosis of benign pigmentation, an excisional biopsy was performed, and a histopathologic diagnosis of POKC was rendered. RESULTS: The lining cells were positive for the proteins GLI2, BCL2, keratin 8, keratin 17, and mTOR. TP53 and Ber-EP4 were also weakly positive. Gene mutational analysis on a buccal swab sample revealed 2 missense mutations in the PTCH1 gene. CONCLUSIONS: This case is a distinctive example of a genuine soft tissue counterpart of keratocystic odontogenic tumor, in which an aberrant PTCH1-GLI pathway played a considerable role in the pathogenesis.
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: María Del Carmen Vázquez-Romero; María de Los Angeles Serrera-Figallo; Javier Alberdi-Navarro; Javier Cabezas-Talavero; Manuel-María Romero-Ruiz; Daniel Torres-Lagares; Jose-Manuel Aguirre-Urizar; Jose-Luis Gutiérrez-Pérez Journal: J Clin Exp Dent Date: 2017-01-01