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

J 2023

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

HURNÍK, Pavel, Barbora MOLDOVAN PUTNOVA, Tereza SEVCIKOVA, Eva HRUBA, Iveta PUTNOVA et. al.

Základní údaje

Originální název

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

Autoři

HURNÍK, Pavel (203 Česká republika, domácí), Barbora MOLDOVAN PUTNOVA, Tereza SEVCIKOVA (203 Česká republika), Eva HRUBA (203 Česká republika), Iveta PUTNOVA (203 Česká republika), Josef SKARDA (203 Česká republika), Martin HAVEL (203 Česká republika), Oldrich RES (203 Česká republika), Jakub CVEK (203 Česká republika), Marcela BUCHTOVÁ (203 Česká republika) a Jan ŠTEMBÍREK (203 Česká republika)

Vydání

BMC Oral Health, London, BMC, 2023, 1472-6831

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30208 Dentistry, oral surgery and medicine

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.900 v roce 2022

Kód RIV

RIV/00216224:14110/23:00134701

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1186/s12903-023-03259-6

UT WoS

001048263200004

Klíčová slova anglicky

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

Štítky

14110517, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 29. 1. 2024 15:01, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

NU20-08-00205, projekt VaV

Název: Molekulární etiopatogeneze apikální periodontitidy a odontogenních cyst

Investor: Ministerstvo zdravotnictví ČR, Molekulární etiopatogeneze apikální periodontitidy a odontogenních cyst, Podprogram 1 - standardní

Citovat

HURNÍK, Pavel, Barbora MOLDOVAN PUTNOVA, Tereza SEVCIKOVA, Eva HRUBA, Iveta PUTNOVA, Josef SKARDA, Martin HAVEL, Oldrich RES, Jakub CVEK, Marcela BUCHTOVÁ a Jan ŠTEMBÍREK. Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses. BMC Oral Health. London: BMC, 2023, roč. 23, č. 1, s. 1-12. ISSN 1472-6831. Dostupné z: https://dx.doi.org/10.1186/s12903-023-03259-6.

@article{2367205,
   author = {Hurník, Pavel and Moldovan Putnova, Barbora and Sevcikova, Tereza and Hruba, Eva and Putnova, Iveta and Skarda, Josef and Havel, Martin and Res, Oldrich and Cvek, Jakub and Buchtová, Marcela and Štembírek, Jan},
   article_location = {London},
   article_number = {1},
   doi = {http://dx.doi.org/10.1186/s12903-023-03259-6},
   keywords = {Ameloblastoma; Carcinoma; Case report; Metastasizing; Malignant; Benign; Wnt pathway; BRAF; FANCA},
   language = {eng},
   issn = {1472-6831},
   journal = {BMC Oral Health},
   title = {Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses},
   url = {https://bmcoralhealth.biomedcentral.com/articles/10.1186/s12903-023-03259-6},
   volume = {23},
   year = {2023}
}

TY  - JOUR
ID  - 2367205
AU  - Hurník, Pavel - Moldovan Putnova, Barbora - Sevcikova, Tereza - Hruba, Eva - Putnova, Iveta - Skarda, Josef - Havel, Martin - Res, Oldrich - Cvek, Jakub - Buchtová, Marcela - Štembírek, Jan
PY  - 2023
TI  - Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses
JF  - BMC Oral Health
VL  - 23
IS  - 1
SP  - 1-12
EP  - 1-12
PB  - BMC
SN  - 14726831
KW  - Ameloblastoma
KW  - Carcinoma
KW  - Case report
KW  - Metastasizing
KW  - Malignant
KW  - Benign
KW  - Wnt pathway
KW  - BRAF
KW  - FANCA
UR  - https://bmcoralhealth.biomedcentral.com/articles/10.1186/s12903-023-03259-6
N2  - 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.
ER  -

HURNÍK, Pavel, Barbora MOLDOVAN PUTNOVA, Tereza SEVCIKOVA, Eva HRUBA, Iveta PUTNOVA, Josef SKARDA, Martin HAVEL, Oldrich RES, Jakub CVEK, Marcela BUCHTOVÁ a Jan ŠTEMBÍREK. Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses. \textit{BMC Oral Health}. London: BMC, 2023, roč.~23, č.~1, s.~1-12. ISSN~1472-6831. Dostupné z: https://dx.doi.org/10.1186/s12903-023-03259-6.

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