A 72-year-old man presented with painless sublingual swelling. Imaging revealed a multi-lobulated, solid-cystic mass on the floor of his mouth. Cytological evaluation showed folded epithelial clusters composed of basaloid cells, keratinised material, and calcification. Histological analysis revealed a multi-cystic, cribriform to solid nest, with an odontogenic satellate reticulum-like epithelium, including ghost cells and dentinoid matrix deposition. Immunohistochemical analysis found that CK19, CK5/6, bcl-2, and p63 were diffuse positive, β-catenin was focal positive in the nuclei, and the cells in the dentinoid matrix were positive for DMP1. The CTNTTB1 mutation was detected, leading to the final diagnosis of ectopic DGCT. There was no recurrence during the 6-month follow-up.
Overall, we have presented a comprehensive clinical overview of DGCT and identified its pathological and genetic features. This report will aid in the recognition of this rare disease in the future and help to avoid misdiagnosis and overtreatment.
一名72岁男子表现为无痛性舌下肿胀。成像显示一个多叶,他嘴底的囊性肿块.细胞学评估显示由基底细胞组成的折叠上皮簇,角化材料,和钙化。组织学分析显示多囊性,冠状到坚固的巢,有牙源性卫星状网状上皮,包括鬼影细胞和牙质基质沉积。免疫组织化学分析发现CK19、CK5/6、bcl-2、p63为弥漫性阳性,β-连环蛋白在细胞核中呈局灶性阳性,牙本质基质中的细胞对DMP1呈阳性。检测到CTNTTB1突变,导致最终诊断为异位DGCT。随访6个月无复发。
总的来说,我们对DGCT进行了全面的临床概述,并确定了其病理和遗传特征。该报告将有助于将来认识这种罕见疾病,并有助于避免误诊和过度治疗。