颌骨造釉细胞癌和转移性造釉细胞瘤是一种罕见的上皮源性牙源性肿瘤，具有侵袭性特征。区分这两种病变在临床上通常很困难，但对于预测肿瘤行为或规划未来治疗是必要的。在这里，我们对这两种病变的可用文献进行了简要回顾，并报告了一位年轻男子患有具有转移特征的造釉细胞瘤的新病例。我们还利用这个病例来说明这两种肿瘤的相似性和差异性以及鉴别诊断的困难。我们的组织病理学分析揭示了一种具有造釉细胞癌特征的转移性肿瘤，其来源于造釉细胞瘤。我们分析了该患者造釉细胞瘤样本中Wnt信号通路成员的基因表达，因为该通路的多个分子参与了细胞极性的建立、细胞迁移或上皮间质转化，在肿瘤转移过程中评估肿瘤行为的特征。我们确实发现了与细胞迁移相关的几个基因在我们的患者中上调表达。此外，我们揭示了已知在癌症发生中起病理作用的BRAF p.V600E体细胞突变和一种细胞系杂合FANCA p.S858R突变，在这种情况下尚未讨论过其解释。总之，我们发现了一种与Wnt信号通路的改变和BRAF突变相关的独特的造釉细胞癌病例。我们的患者发展为有害状态也可能受到一种FANCA等位基因突变的支持，但这需要通过进一步的分析来确认。© 2023. BioMed Central Ltd., part of Springer Nature.

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.© 2023. BioMed Central Ltd., part of Springer Nature.