Comprehensive clinical, genome and transcriptomic analysis of primary ghost cell odontogenic carcinoma

Objectives: There is currently no comprehensive genome-wide description of the primary ghost cell odontogenic carcinoma (GCOC), hindering our understanding of pathogenesis. We herein present a case with comprehensive clinical, genome and transcriptomic analysis. These will serve as the first comprehensive molecular atlas for primary GCOC. A 58-year-old male underwent subtotal resection with prosthetic restoration. Genome sequencing (WGS) detected previously identified CTNNB1 mutation with novel alterations of MAP3K, EP300, and 22q11.21 region. Transcriptome results showed significant involvement of cytokine-cytokine receptor interaction and PI3K-Akt signaling pathway. These results need to be compared with more GCOCs for more accurate clinical guidance.

Automated summary

This study presents a comprehensive clinical, genomic, and transcriptomic analysis of primary ghost cell odontogenic carcinoma (GCOC). The results provide the first comprehensive molecular atlas for primary GCOC, including previously identified CTNNB1 mutation and novel alterations in MAP3K, EP300, and the 22q11.21 region. The transcriptome analysis reveals significant involvement of cytokine-cytokine receptor interaction and the PI3K-Akt signaling pathway. More GCOC cases should be compared to validate these findings for accurate clinical guidance.