Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, which depicted presence of numerous basal cell carcinoma in conjunction with multiorgan abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the keratocystic odontogenic tumour are usually one of the first manifestations of the syndrome. This article includes a case report of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumour and treatment modalities.
- MeSH
- bazocelulární karcinom * MeSH
- dítě MeSH
- fenotyp MeSH
- lidé MeSH
- nádory kůže * MeSH
- odontogenní nádory * MeSH
- syndrom bazocelulárního névu * diagnóza MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Salivary gland neoplasms account for 3% of all head and neck tumours. Pleomorphic adenoma (PA) is the most common salivary gland tumour that mainly occurs in the parotid gland, followed by minor salivary glands of the oral cavity, however, the occurrence of PA inside the jaw bones is exceedingly rare and very few cases have been reported in the literature. Inside jaw bones these lesions tend to imitate large osteolytic lesions encompass a diagnostic challenge. An exhaustive review of the literature revealed only 10 cases of central pleomorphic adenoma. We present a rare case of primary PA that occurred inside the mandible and was provisionally diagnosed as ameloblastoma.
- MeSH
- lidé MeSH
- mladiství MeSH
- nádory maxily diagnostické zobrazování MeSH
- odontom * diagnostické zobrazování MeSH
- prořezávání zubů MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: Ameloblastic 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 PRESENTATION: Our 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. CONCLUSIONS: In 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.
- MeSH
- ameloblastom * genetika diagnóza MeSH
- karcinom * patologie MeSH
- lidé MeSH
- mutace MeSH
- odontogenní nádory * diagnóza genetika MeSH
- protoonkogenní proteiny B-raf genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- dospělí MeSH
- extrakce zubů MeSH
- Gardnerův syndrom patologie MeSH
- lidé MeSH
- odontom * chirurgie patologie terapie MeSH
- rentgendiagnostika zubní metody MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- cementom * diagnostické zobrazování komplikace patologie MeSH
- dospělí MeSH
- lidé MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
OBJECTIVES: Primary cilium is a cellular organelle with growing significance confirmed in tumour biology. Primary cilia have been associated with fine tuning of numerous cell signalling pathways and the role of this structure in cancer initiation and progression is recently at the forefront of attention. Here, we investigated possible alterations in the occurrence of primary cilia and changes of associated signalling in ameloblastoma, which represents the most common odontogenic tumour. METHODS: We performed immunohistochemistry to assess the number and morphology of primary cilia in ameloblastoma tissues. The gene expression of key SHH pathway members was analysed by qPCR. As a functional experiment, we treated a primary ameloblastoma cell line by a SHH pathway inhibitor Sonidegib (LDE225). RESULTS: We uncovered differences in primary cilia distribution and appearance in histological subtypes of ameloblastoma with the highest number of ciliated cells in plexiform and follicular subtypes. SHH protein was located close to primary cilia in ameloblastoma epithelial cells and the expression of molecules downstream of SHH signalling was upregulated. Moreover, the inhibition of SHH pathway by Sonidegib caused downregulation of SHH effector gene GLI1 and cell cycle regulator CCND1 in ameloblastoma primary cell line. The inhibition of SHH signalling also altered the expression of molecules involved in intraflagellar transport. CONCLUSIONS: In conclusion, our study uncovered alterations in number of ciliated cells and associated signalling in ameloblastoma, which indicate SHH inhibitors as potential therapeutic target to treat this disease.
- MeSH
- ameloblastom * metabolismus MeSH
- cilie metabolismus MeSH
- lidé MeSH
- odontogenní nádory * metabolismus MeSH
- proteiny hedgehog metabolismus MeSH
- signální transdukce MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Aim: The aim of the presented work was to establish the success rate of spontaneous eruption of teeth (with incomplete roots development) with dentigerous (follicular) cyst into the mouth cavity after completed cystectomy. Further, the position of impacted teeth with obstacles represented by dentigerous cysts, odontoma, or supernumerary tooth. The difference in the speed of eruption of spontaneously erupted teeth and orthodontically aligned teeth was also assessed. Material: The sample included 46 patients with 60 impacted teeth. The impaction was caused by dentigerous cyst in 6 patients (14 teeth), odontoma in 19 patients (21 teeth), and supernumerary tooth in 19 patients (23 teeth). In 2 patients it was dentigerous cyst together with odontoma (2 teeth). Method: The success rate of spontaneous eruption of impacted teeth following removal of dentigerous cyst, odontoma or supernumerary tooth was evaluated. In OPGs or in OPGs generated from CBCT (CBCT-to-OPG) the following characteristics were compared: depth, distance of apex from its regular position, difference in angles to vertical reference line between the impacted tooth and its contralateral opposite. The speed of eruption of teeth into the mouth cavity was calculated for spontaneously erupted teeth and for actively aligned teeth. Results: The method of impacted tooth with incompletely developed root after cystectomy was successful in all cases, i.e. the teeth spontaneously erupted into the mouth cavity. Between individual obstacles (dentigerous cyst, odontoma, supernumerary tooth) there was found no statistically significant difference in the depth and angles to vertical reference line of the affected tooth and its opposite. However, the difference in the distance of apex from its regular position was statistically significant. In case of dentigerous cysts the apex position was less affected. Teeth actively aligned erupted significantly more rapidly than teeth erupting spontaneously after the obstacle was removed.
- MeSH
- cystektomie MeSH
- dítě MeSH
- folikulární cysta * MeSH
- lidé MeSH
- odontom MeSH
- prořezávání zubů * MeSH
- rentgendiagnostika panoramatická MeSH
- statistika jako téma MeSH
- zaklíněný zub MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- klinická studie MeSH
Východiska: Keratocystický odontogenní tumor (keratocystic odontogenic tumor – KCOT) je rekurentní benigní tumor tvaru keratinizovaného epitelu. Způsob léčby je stále předmětem diskusí. Cílem všech léčebných metod je eradikace cysty a omezení rekurence a pooperačních komplikací. Tento přehledový článek byl vytvořen s cílem zhodnotit závěry studií zaměřených na diagnostiku, léčbu a rekurenci KCOT. Metody: Informace byly shromažďovány po zadání slov management, léčba, farmakologie, operace a keratocystický odontogenní tumor do mezinárodních databází Web of Science, PubMed a Scopus. Sledování dat probíhalo v období let 2010–2020. Výsledky: Mezi techniky používané při léčbě patří dekomprese, marsupializace, enukleace s následnou operací čelistní dutiny ze zevního přístupu dle Caldwell-Luca nebo bez ní a resekce. Ze 40 studií byla rekurence pozorována v 13 studiích a u různých léčebných metod se pohybovala v rozmezí 0–48 %. Závěr: V důsledku vysoké rekurence onemocnění se po léčbě doporučuje dlouhodobé sledování. Rozhodnutí o způsobu léčby by mělo zohledňovat věk pacienta, velikost nádoru a místo výskytu, aby se co nejvíce snížila ekonomická a psychická zátěž tímto onemocněním.
Background: Keratocystic odontogenic tumor (KCOT) is a recurrent benign tumor with a keratinized epithelial shape. The treatment methods in KCOT are still debated. The aim of all treatment methods is to eradicate the cyst and to reduce recurrence and surgical complications. This review article was conducted to assess the findings of studies on the diagnosis, management and recurrence of KCOT. Methods: Information were gathered by searching keywords such as management, treatment, pharmacology, surgery and keratocystic odontogenic tumor in international databases such as Web of Science, PubMed and Scopus. The search period was between 2010–2020. Results: Techniques used for the treatment include decompression, marsupialization, enucleation with or without adjunct, Caldwell-Luc surgery and resection. Of the 40 studies, recurrence was observed in 13 studies and the recurrence ranged from 0 to 48% in different treatment methods. Conclusion: Due to the high recurrence of this disease, it is suggested that long term follow-up be considered after treatment to reduce recurrence. Decision on the treatment should be made considering age, tumor size, and the site of involvement in order to reduce the economic and psychological burden of the disease.
