Magalhães Maria Carolina Silva Versieux, Felix Fernanda Aragão, Guimarães Letícia Martins, Dos Santos Jean Nunes, de Marco Luiz Armando, Gomez Ricardo Santiago, Gomes Carolina Cavaliéri, de Sousa Sílvia Ferreira
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil.
Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil.
J Oral Pathol Med. 2023 Mar;52(3):271-275. doi: 10.1111/jop.13364. Epub 2022 Nov 2.
TERT promoter mutations increase telomerase activity, conferring cell immortality. The coexistence of TERT promoter mutations with BRAFV600E is associated with aggressiveness. Ameloblastoma and ameloblastic carcinoma are infiltrative neoplasms that harbor BRAFV600E; however, it remains unknown if these odontogenic tumors also show TERT promoter mutations.
Genomic DNA of paraffin-embedded ameloblastomas (n = 6) and ameloblastic carcinomas (n = 3) were Sanger-sequenced to assess the hotspot TERT promoter mutations C228T and C250T. BRAFV600E status was screened by TaqMan allele-specific quantitative polymerase chain reaction.
None of the samples harbored TERT promoter mutations. The BRAFV600E mutation was positive in 3 of 6 of ameloblastomas and in 1 of 3 of ameloblastic carcinomas.
The absence of TERT promoter mutation in the samples indicates that this molecular event is not relevant to the tumors' pathogenesis. Further studies are necessary to explore undefined genetic or epigenetic mechanisms related to TERT-upregulation in ameloblastoma, and the telomerase activity in ameloblastic carcinoma.
端粒酶逆转录酶（TERT）启动子突变可增加端粒酶活性，赋予细胞永生性。TERT启动子突变与BRAFV600E共存与侵袭性相关。成釉细胞瘤和成釉细胞癌是具有BRAFV600E的浸润性肿瘤；然而，这些牙源性肿瘤是否也存在TERT启动子突变仍不清楚。
对石蜡包埋的成釉细胞瘤（n = 6）和成釉细胞癌（n = 3）的基因组DNA进行桑格测序，以评估TERT启动子热点突变C228T和C250T。通过TaqMan等位基因特异性定量聚合酶链反应筛选BRAFV600E状态。
所有样本均未发生TERT启动子突变。BRAFV600E突变在6例成釉细胞瘤中的3例以及3例成釉细胞癌中的1例呈阳性。
样本中未出现TERT启动子突变表明该分子事件与肿瘤发病机制无关。有必要进一步研究以探索与成釉细胞瘤中TERT上调以及成釉细胞癌中端粒酶活性相关的未明确的遗传或表观遗传机制。
