A 36-year-old African American male presented with a COF and its recurrence 17 months later. Tissue pieces were obtained from both occurrences with IRB-approved signed consent. Collected tissue pieces were dissected; one portion was formalin-fixed and paraffin-embedded, and the other was cultured for the isolation of cell populations from the primary (COdF-1) and recurrent (COdF-1a) tumors. Quantification real-time polymerase chain reaction (qRT-PCR), immunohistochemistry, and DNA sequencing were used for gene and protein analysis of the primary tumor and cell populations.
Histopathologic analysis of the tumor showed sparse odontogenic epithelial cords in fibrous connective tissue, and qRT-PCR analysis of tumor and cell populations (COdF-1 and COdF-1a) detected VIM, CK14, CD34, CD99 and ALPL mRNA expression. Protein expression was confirmed by immunohistochemistry. CD34 expression in primary tissues was higher than in tumor cells due to tumor vascularization. DNA sequencing indicated the patient had PTCH1 mutations.
Histopathology, mRNA, and protein expression indicate the rare occurrence of COF in a patient with mutated PTCH1 gene and NBCCS.
方法:一名36岁的非裔美国男性出现COF,17个月后复发。从两次事件中获得组织碎片,并获得IRB批准的签署同意书。解剖收集的组织块;一部分用福尔马林固定并石蜡包埋,另一个培养用于从原发性(COdF-1)和复发性(COdF-1a)肿瘤中分离细胞群。定量实时聚合酶链反应(qRT-PCR),免疫组织化学,和DNA测序用于原发性肿瘤和细胞群体的基因和蛋白质分析。
结果:肿瘤的组织病理学分析显示纤维结缔组织中牙源性上皮索稀疏,和qRT-PCR分析的肿瘤和细胞群体(COdF-1和COdF-1a)检测到VIM,CK14、CD34、CD99和ALPLmRNA表达。通过免疫组织化学证实蛋白质表达。由于肿瘤血管化,CD34在原代组织中的表达高于肿瘤细胞。DNA测序提示患者存在PTCH1突变。
结论:组织病理学,mRNA和蛋白质表达表明在PTCH1基因和NBCCS突变的患者中COF的罕见发生。