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.

Basic information

Original name

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

Authors

HURNÍK, Pavel (203 Czech Republic, belonging to the institution), Barbora MOLDOVAN PUTNOVA, Tereza SEVCIKOVA (203 Czech Republic), Eva HRUBA (203 Czech Republic), Iveta PUTNOVA (203 Czech Republic), Josef SKARDA (203 Czech Republic), Martin HAVEL (203 Czech Republic), Oldrich RES (203 Czech Republic), Jakub CVEK (203 Czech Republic), Marcela BUCHTOVÁ (203 Czech Republic) and Jan ŠTEMBÍREK (203 Czech Republic)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30208 Dentistry, oral surgery and medicine

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.900 in 2022

RIV identification code

RIV/00216224:14110/23:00134701

Organization unit

Faculty of Medicine

DOI

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

UT WoS

001048263200004

Keywords in English

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

Abstract

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.

Links

NU20-08-00205, research and development project

Name: Molekulární etiopatogeneze apikální periodontitidy a odontogenních cyst

Investor: Ministry of Health of the CR, Subprogram 1 - standard

Citovat

HURNÍK, Pavel, Barbora MOLDOVAN PUTNOVA, Tereza SEVCIKOVA, Eva HRUBA, Iveta PUTNOVA, Josef SKARDA, Martin HAVEL, Oldrich RES, Jakub CVEK, Marcela BUCHTOVÁ and Jan ŠTEMBÍREK. Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses. BMC Oral Health. London: BMC, 2023, vol. 23, No 1, p. 1-12. ISSN 1472-6831. Available from: 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 and Jan ŠTEMBÍREK. Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses. \textit{BMC Oral Health}. London: BMC, 2023, vol.~23, No~1, p.~1-12. ISSN~1472-6831. Available from: https://dx.doi.org/10.1186/s12903-023-03259-6.

Detailed Information on Publication Record