Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel

Area of Science:

• Genetics
• Oncology
• Oral Pathology

Background:

• Odontogenic keratocyst (OKC) is a manifestation of Gorlin syndrome (GS), linked to hedgehog signaling pathway activation.
• OKC often occurs asymptomatically in young adults, complicating early Gorlin syndrome diagnosis.
• This study aimed to detect asymptomatic GS in sporadic OKC cases using a targeted gene panel.

Purpose of the Study:

• To identify asymptomatic Gorlin syndrome (GS) in patients diagnosed with sporadic Odontogenic Keratocyst (OKC).
• To investigate the role of specific genes in the development and recurrence of OKC.
• To assess the potential of a gene panel for diagnosing GS in OKC patients.

Main Methods:

• Genomic DNA extraction from patient samples.
• Analysis using an AmpliSeq Custom DNA Panel targeting PTCH1, PTCH2, SMO, and SUFU genes.
• Mutation prediction utilizing MutationTaster, CADD, and Polyphen-2 tools.

Main Results:

• One patient with sporadic OKC showed a 50% genetic mutation, indicating Gorlin syndrome.
• PTCH1 mutations were identified in dentigerous cysts, first-time sporadic OKC cases, and recurrent OKC cases.
• PTCH1 mutations were confirmed in resected OKC tissues.

Conclusions:

• One case of Gorlin syndrome was identified among patients with sporadic Odontogenic Keratocyst.
• PTCH1 mutations are associated with postoperative recurrence of OKC.
• Hedgehog-related gene variations may influence jaw cyst development and prognosis.