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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