Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/61988987:17110/23:A2402LYD RIV/61989592:15110/23:73619937 RIV/62157124:16170/23:43880556 RIV/00098892:_____/23:10157933 a 2 dalších
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses
Popis výsledku anglicky
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.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30208 - Dentistry, oral surgery and medicine
Návaznosti výsledku
Projekt
<a href="/cs/project/NU20-08-00205" target="_blank" >NU20-08-00205: Molekulární etiopatogeneze apikální periodontitidy a odontogenních cyst</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2023
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
BMC Oral Health
ISSN
1472-6831
e-ISSN
1472-6831
Svazek periodika
23
Číslo periodika v rámci svazku
1
Stát vydavatele periodika
GB - Spojené království Velké Británie a Severního Irska
Počet stran výsledku
12
Strana od-do
563
Kód UT WoS článku
001048263200004
EID výsledku v databázi Scopus
2-s2.0-85167770318