Molecular Pathology Research Project of Glioma

NCT ID: NCT04924127

Last Updated: 2023-04-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

976 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-12-05

Study Completion Date

2021-12-20

Brief Summary

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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

Detailed Description

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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.

Conditions

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Glioma, Malignant

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Study Groups

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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.

Detection of IDH and TERT mutation

Intervention Type DIAGNOSTIC_TEST

Detection of IDH and TERT mutation using frozen glioma tissues

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.

Detection of IDH and TERT mutation

Intervention Type DIAGNOSTIC_TEST

Detection of IDH and TERT mutation using frozen glioma tissues

Interventions

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Detection of IDH and TERT mutation

Detection of IDH and TERT mutation using frozen glioma tissues

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Jinsong Wu

OTHER

Sponsor Role lead

Responsible Party

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Jinsong Wu

Prof.

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Jin-song Wu, MD & PhD

Role: STUDY_CHAIR

Huashan Hospital

Locations

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Huashan Hospital

Shanghai, Jingan District, China

Site Status

Countries

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China

References

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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.

Reference Type DERIVED
PMID: 40457320 (View on PubMed)

Other Identifiers

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KY2019-539

Identifier Type: -

Identifier Source: org_study_id

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