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Updated: Jul 19, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
[Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing]
1Dept. of Oral Pathology, School of Stomatology, Peking University, Beijing 100081, China.
Objective:
To investigate PTCH gene mutations in odontogenic keratocysts (OKC).
Methods:
PCR-SSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC.
Results:
Four mutations were identified in 4 cysts, among which two germline mutations were associated with NBCCS and 2 somatic mutations were in 2 unrelated sporadic cases. In addition, eight previously reported polymorphisms in the PTCH gene were also found in 10 cases.
Conclusion:
The present study indicated that both sporadic and NBCCS-related OKCs could carry PTCH gene mutation. Thus, mutational inactivation of PTCH gene may play a significant role in the pathogenesis of OKC.
