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

BMC Oral Health

Case Report

Tereza Ševčíková¹  Martin Havel²  Jakub Cvek³  Oldřich Res⁴  Josef Škarda⁵  Eva Hrubá⁶  Marcela Buchtová⁶  Iveta Putnová⁷  Jan Štembírek⁸  Barbora Moldovan Putnová⁹  Pavel Hurník^1,10 

[1] Department of Hematooncology, Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic;Department of Hematooncology, University Hospital Ostrava, Ostrava, Czech Republic;Department of Nuclear Medicine, University Hospital Ostrava, Ostrava, Czech Republic;Department of Oncology, Faculty of Medicine and University Hospital Ostrava, Ostrava, Czech Republic;Department of Oral and Maxillofacial Surgery, University Hospital Ostrava, Ostrava, Czech Republic;Institute of Clinical and Molecular Pathology and Medical Genetics, Faculty Hospital and Medical Faculty Ostrava, Ostrava, Czech Republic;Department of Clinical and Molecular Pathology, Faculty of Medicine and Dentistry, Palacky University and University Hospital in Olomouc, Olomouc, Czech Republic;Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic;Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic;Department of Anatomy, Histology and Embryology, University of Veterinary Sciences, Brno, Czech Republic;Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic;Department of Oral and Maxillofacial Surgery, University Hospital Ostrava, Ostrava, Czech Republic;Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic;Department of Pathological Morphology and Parasitology, University of Veterinary Sciences, Brno, Czech Republic;Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic;Institute of Clinical and Molecular Pathology and Medical Genetics, Faculty Hospital and Medical Faculty Ostrava, Ostrava, Czech Republic;Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic;

关键词: Ameloblastoma;    Carcinoma;    Case report;    Metastasizing;    Malignant;    Benign;    Wnt pathway;    BRAF;    FANCA;   

DOI  :  10.1186/s12903-023-03259-6

 received in 2022-08-02, accepted in 2023-07-27,  发布年份 2023

来源: Springer

【 摘 要 】

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.

【 授权许可】

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

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