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

• The study is the first comprehensive molecular atlas for primary GCOC. • Alterations in the 22q11.21 region is a novel discovery of pathogenesis. • Cytokine-cytokine receptor interaction and PI3K-Akt signaling pathway could be the underlying oncogenesis of GCOC. 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. [ABSTRACT FROM AUTHOR]