Abstract：
OBJECTIVE: 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.
摘要：
目的：目前尚无完整的全基因组描述原发性牙细胞牙源性癌（GCOC），阻碍了我们对发病机制的理解。我们在这里提出一个全面的临床病例，基因组和转录组学分析。这些将作为初级GCOC的第一个全面的分子图谱。一名58岁的男性接受了假体修复的次全切除术。基因组测序（WGS）检测到先前鉴定的CTNNB1突变与MAP3K的新变化，EP300和22q11.21地区。转录组结果显示细胞因子-细胞因子受体相互作用和PI3K-Akt信号通路显著参与。这些结果需要与更多的GCOC进行比较，以获得更准确的临床指导。
