Publication details
Cílená detekce somatických mutací u pacientů s ameloblastomem: série případů
| Title in English | Targeted detection of somatic mutations in patients with ameloblastoma: a case series |
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| Authors | |
| Year of publication | 2023 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Introduction: ameloblastoma (AM) is a benign odontogenic tumor of the vitreous epithelium, characterized by locally destructive growth and frequent (about 30%) recurrence after removal. Rarely, AM may malignize. About 80% of AM occur in the mandible, usually in the angle and molar region. The most common molecular cause of ameloblastoma is thought to be mutations in the BRAF and SMO genes, with SMO mutations predominating in maxillary AM and BRAF mutations in mandibular AM. The aim of our study was to analyze possible additional mutations that may potentially contribute to the development of AM. Methods. Six patients underwent resection for AM in the mandible and four patients for AM in the maxilla. DNA was isolated from the paraffin block using the QIAamp DNA FFPE Tissue kit (Qiagen) and a sequencing library was prepared using the commercial CleanPlex OncoZoom Cancer Hotspot Kit for targeted detection of somatic mutations in 65 oncogenes and tumor suppressor genes. Results. We found an SMO mutation (rs879255280) in 4 patients with AM in the maxilla and a BRAF mutation (rs113488022) in 2 patients with AM in the mandible. In addition, mutations with (potentially) pathogenic significance in FGFR2 (rs121913474, rs121913478) were found in 2 patients with AM in the maxilla, in one of whom a deletion in the ATM gene was also identified. In addition to a pathogenic variant in the BRAF gene, we also found a deletion in PIK3CA (rs397517199) in one patient with AM in the mandible. Conclusion. Also, the finding of mutations in FGFR2 and PIK3CA genes was expected, however, deletion in ATM gene has not been associated with AM so far. There is only one case in the literature of a patient with Luis-Barr syndrome who carries a deletion in the ATM gene and had ameloblastoma in the mandible. When the ATM gene is mutated, the DNA-dependent protein kinase produced has a reduced function and DNA repair mechanisms are impaired, which results in an increased susceptibility to malignant transformation. |
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