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Evaluate the diagnostic value of TERT promoter mutation in differ glioma subtypes and expend the application of the diagnostic algorithm to surgical practice
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Discovery cohort | Retrospective frozen tissue and paired peripheral blood samples were obtained from the Huashan Glioma Biobank between October 2010 and August 2018. A total of 753 patients diagnosed with supratentorial diffuse glioma (WHO grade 2-4) aged 18-80 years were selected for the study. |
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| Validation cohort | From January to July 2021, 223 frozen tissue samples were retrieved from the Huashan Glioma Biobank. In addition, 107 frozen tumor samples were used to assess the detection accuracy of the IDH and TERTp mutation rapid test. The accuracy of this qPCR-based rapid test was further confirmed by Sanger and targeted sequencing. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Detection of IDH and TERT mutation | Diagnostic Test | Detection of IDH and TERT mutation using frozen glioma tissues |
|
| Measure | Description | Time Frame |
|---|---|---|
| Evaluate the diagnostic value of TERT promoter mutation in differ glioma subtypes | 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 | through study completion, an average of 1 week |
| Derivation and validation of a simplified diagnostic scheme | 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. | through study completion, an average of 1 week |
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Inclusion Criteria:
Exclusion Criteria:
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Glioma patient from Huashan Hospital with Informed Consent Form
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| Name | Affiliation | Role |
|---|---|---|
| Jin-song Wu, MD & PhD | Huashan Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Huashan Hospital | Shanghai | Jingan District | 200040 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40457320 | Derived | Wu J, Wu S, Cao D, Xiong Z, Zhang J, Zou Y, Wu Z, Nie Y, Luo C, Yao Y, Song Y, Jiao Y, Chen H, Ma H, Kang D, Mao Y, Yan H. Rapid diagnosis of adult-type diffuse glioma using a layered scheme. BMC Med. 2025 Jun 2;23(1):325. doi: 10.1186/s12916-025-04124-9. |
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| ID | Term |
|---|---|
| D005910 | Glioma |
| ID | Term |
|---|---|
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
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| D009369 | Neoplasms |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |