Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses

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Authors

HURNÍK Pavel MOLDOVAN PUTNOVA Barbora SEVCIKOVA Tereza HRUBA Eva PUTNOVA Iveta SKARDA Josef HAVEL Martin RES Oldrich CVEK Jakub BUCHTOVÁ Marcela ŠTEMBÍREK Jan

Year of publication 2023
Type Article in Periodical
Magazine / Source BMC Oral Health
MU Faculty or unit

Faculty of Medicine

Citation
Web https://bmcoralhealth.biomedcentral.com/articles/10.1186/s12903-023-03259-6
Doi http://dx.doi.org/10.1186/s12903-023-03259-6
Keywords Ameloblastoma; Carcinoma; Case report; Metastasizing; Malignant; Benign; Wnt pathway; BRAF; FANCA
Description BackgroundAmeloblastic 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.Case presentationOur 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. ConclusionsIn 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.
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