背景:成釉细胞癌和转移性成釉细胞瘤是罕见的上皮牙源性肿瘤,具有侵袭性特征。区分这两种病变通常在临床上很困难,但对于预测肿瘤行为或计划未来的治疗是必要的。这里,我们简要回顾了有关这两种类型病变的现有文献,并提供了一例年轻男性成釉细胞瘤转移特征的新病例报告。我们还使用此案例来说明这两种类型的肿瘤之间的异同及其鉴别诊断的困难。
方法:我们的组织病理学分析发现了具有成釉细胞癌特征的转移性肿瘤,它是从成釉细胞瘤发展而来的。我们分析了该患者成釉细胞瘤样本中Wnt通路成员的基因表达,因为该途径的多个分子参与细胞极性的建立,细胞迁移或肿瘤转移过程中的上皮-间质转化,以评估肿瘤行为的特征。的确,我们在患者中发现了几种细胞迁移相关基因的上调.此外,我们发现了在癌症发生和种系杂合FANCAp.S858R突变中具有已知病理作用的体细胞突变BRAFp.V600E,他在这方面的解释还没有讨论过。
结论:结论:我们发现一例与Wnt信号改变和BRAF突变相关的成釉细胞癌的独特病例.一个FANCA等位基因的种系突变也可能支持我们患者的有害状态的发展,然而,这必须通过进一步的分析来证实。
Ameloblastic carcinoma and metastasising ameloblastoma are rare epithelial odontogenic tumours with aggressive features. Distinguishing between these two lesions is often clinically difficult but necessary to predict tumour behaviour or to plan future therapy. Here, we provide a brief review of the literature available on these two types of lesions and present a new
case report of a young man with an ameloblastoma displaying metastatic features. We also use this
case to illustrate the similarities and differences between these two types of tumours and the difficulties of their differential diagnosis.
Our histopathological analyses uncovered a metastasising tumour with features of ameloblastic carcinoma, which developed from the ameloblastoma. We profiled the gene expression of Wnt pathway members in ameloblastoma sample of this patient, because multiple molecules of this pathway are involved in the establishing of cell polarity, cell migration or for epithelial-mesenchymal transition during tumour metastasis to evaluate features of tumor behaviour. Indeed, we found upregulation of several cell migration-related genes in our patient. Moreover, we uncovered somatic mutation BRAF p.V600E with known pathological role in cancerogenesis and germline heterozygous FANCA p.S858R mutation, whose interpretation in this context has not been discussed yet.
In conclusion, we have uncovered a unique
case of ameloblastic carcinoma associated with an alteration of Wnt signalling and the presence of BRAF mutation. Development of harmful state of our patient might be also supported by the germline mutation in one FANCA allele, however this has to be confirmed by further analyses.