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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F23%3A00575030" target="_blank" >RIV/67985904:_____/23:00575030 - isvavai.cz</a>

Alternative codes found

RIV/61988987:17110/23:A2402LYD RIV/61989592:15110/23:73619937 RIV/62157124:16170/23:43880556 RIV/00098892:_____/23:10157933 and 2 more

Result on the web

<a href="https://bmcoralhealth.biomedcentral.com/articles/10.1186/s12903-023-03259-6" target="_blank" >https://bmcoralhealth.biomedcentral.com/articles/10.1186/s12903-023-03259-6</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s12903-023-03259-6" target="_blank" >10.1186/s12903-023-03259-6</a>

Result language

angličtina

Original language name

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

Original language 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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30208 - Dentistry, oral surgery and medicine

Project

<a href="/en/project/NU20-08-00205" target="_blank" >NU20-08-00205: Molecular etiopathogenesis of apical periodontitis and odontogenic cystic lesions</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

BMC Oral Health

ISSN

1472-6831

e-ISSN

1472-6831

Volume of the periodical

23

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

12

Pages from-to

563

UT code for WoS article

001048263200004

EID of the result in the Scopus database

2-s2.0-85167770318