Glioma, Malignant
Conditions
Keywords
Molecular pathology
Brief summary
Evaluate the diagnostic value of TERT promoter mutation in differ glioma subtypes and expend the application of the diagnostic algorithm to surgical practice
Detailed description
A total of 976 gliomas were enrolled in this study. First, in order to evaluate the diagnostic value of TERT promoter mutation in differ glioma subtypes, we conducted a retrospective cohort study included 753 frozen tissue samples of patients with different grades of glioma. According to WHO CNS5, all recommended alteration including IDH, 1p/19q, TERT, EGFRamp and 7+/10- were profiled using multiple approaches and a permanent diagnosis was obtained for each patient. Exploring the feasibility of the molecular pathology model of patients with glioma via retrospective research. Compare with the existing molecular pathology system, analyze the combination of IDH and TERT mutations and the feasibility of stratifying the prognosis of patients with glioma. Moreover, to expend the application of the diagnostic algorithm to surgical practice, we developed a fast detection assay that could detect hotspot somatic mutations in IDH and TERT within 25 minutes and can discriminate TERT and IDH mutations from wild-type alleles with a minimum variant allele frequency (VAF) of 0.2% and 0.5%, respectively. We further validate the simplified diagnostic algorithm on frozen tissue of 223 patients with glioma in another retrospective cohort and performed this assay to evaluate the accuracy of the rapid assay.
Interventions
DIAGNOSTIC_TESTDetection of IDH and TERT mutation
Detection of IDH and TERT mutation using frozen glioma tissues
Sponsors
Jinsong Wu
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* Clinical diagnosis of Glioma * Glioma patient with long-term follow-up data and intact clinical data
Exclusion criteria
* Glioma patient without Informed Consent Form * Glioma patient without long-term follow-up data or intact clinical data
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate the diagnostic value of TERT promoter mutation in differ glioma subtypes | through study completion, an average of 1 week | According to WHO CNS5, all recommended alteration including IDH, 1p/19q, TERT, EGFRamp and 7+/10- were profiled using multiple approaches and a permanent diagnosis was obtained for each patient. Exploring the feasibility of the molecular pathology model of patients with glioma |
| Derivation and validation of a simplified diagnostic scheme | through study completion, an average of 1 week | Derivation of a simplified diagnostic scheme based on IDH and TERT promoter (TERTp) mutations combined with histology and evaluation of its feasibility of stratifying the prognosis of patients with glioma when comparing with WHO CNS5 criteria. |
Countries
China
Outcome results
None listed