Clinical implications of TERT promoter mutation on IDH mutation and MGMT promoter methylation in diffuse gliomas
Autor: | Mi Jung Kwon, Joon Ho Song, Kyueng-Whan Min, Ho Young Kim, Hyun Sik Kim, Eun Soo Kim |
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Rok vydání: | 2018 |
Předmět: |
Adult
Male IDH1 Adolescent Kaplan-Meier Estimate medicine.disease_cause Disease-Free Survival Pathology and Forensic Medicine Young Adult 03 medical and health sciences 0302 clinical medicine Promoter methylation Biomarkers Tumor Humans Medicine Telomerase reverse transcriptase Tert promoter mutation Promoter Regions Genetic DNA Modification Methylases Telomerase neoplasms Gene Aged Mutation Brain Neoplasms business.industry Tumor Suppressor Proteins Promoter Glioma Cell Biology DNA Methylation Middle Aged Prognosis Isocitrate Dehydrogenase digestive system diseases Idh mutation DNA Repair Enzymes 030220 oncology & carcinogenesis Cancer research Female business 030217 neurology & neurosurgery |
Zdroj: | Pathology - Research and Practice. 214:881-888 |
ISSN: | 0344-0338 |
Popis: | IDH mutation and MGMT promoter methylation are reliable prognostic and predictive biomarkers in grade II–IV diffuse gliomas. Recurrent mutations in the promoter region of the telomerase reverse transcriptase (TERTp) gene have also been found in diffuse gliomas. However, the prognostic and predictive effects of TERTp mutation on IDH or MGMT status are largely unknown. IDH1/2 and TERTp mutations, as well as MGMT methylation statuses, were examined via peptide nucleic acid-mediated PCR clamping and MGMT methylation-specific PCR in 67 paraffinized tumor samples, respectively. TERTp mutation was associated with older patients (≥60 years) and frontally located gliomas. Old age, frontal location, and grade IV were found to be predictive factors of TERTp mutation. TERTp mutation resulted in poor prognosis in overall diffuse gliomas. TERTp mutation was not correlated with overall survival (OS) or progression-free survival (PFS) in the diffuse gliomas. However, TERTp mutations, in combination with MGMT methylation or IDH mutation, showed that there were statistical significant survival differences between MGMT-unmethylated/TERTp-mutated and MGMT-unmethylated/TERTp-wildtype subgroups in grade II gliomas. There was a statistical significant survival difference of OS between IDH-wildtype/TERTp-mutated and IDH-mutated/TERTp-mutated subgroups in grade III gliomas. No significant associations between survival and MGMT/TERTp or IDH/TERTp status were found in grade IV gliomas. In conclusion, the combination of TERTp with IDH or MGMT status may be a prognostic indicator depending on grades. |
Databáze: | OpenAIRE |
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