Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas

Publication Date: February 17, 2022
Last Updated: November 29, 2023

Summary of Recommendations

Isocitrate dehydrogenase (IDH) mutational testing must be performed on all diffuse gliomas (DG). (S)
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ATRX chromatin remodeler (ATRX) status should be assessed in all IDH-mutant DG unless they show 1p/19q codeletion. (S)
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Tumor protein p53 (TP53) status should be assessed in all IDH-mutant DG unless they show 1p/9q codeletion. (C)
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1p/19q codeletion must be assessed in IDH-mutant DG unless they show ATRX loss or TP53 mutations. (S)
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Cyclin-dependent kinase inhibitor 2A (CDKN2A)/cyclindependent kinase inhibitor 2B (CDKN2B) homozygous deletion testing should be performed on IDH-mutant astrocytomas. (C)
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O-6-methylguanine-DNA methyltransferase (MGMT) promoter methylation testing should be performed on all glioblastoma (GBM), IDH-wild type (WT). (S)
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For IDH-mutant DG, MGMT promoter methylation testing may not be necessary. (C)
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TERT promoter mutation testing may be used to provide further support for the diagnosis of oligodendroglioma and IDH-WT GBM. (C)
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For histologic grade 2-3 DG that are IDH-WT, testing should be performed for whole chromosome 7 gain/whole chromosome 10 loss, epidermal growth factor (EGFR) amplification, and telomerase reverse transcriptase (TERT) promoter mutation to establish the molecular diagnosis of glioblastoma (GBM), IDH-WT, grade 4. (S)
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Histone 3 (H3) K27M testing must be performed in DG that involve the midline in the appropriate clinical and pathologic setting. (S)
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H3 G34 testing may be performed in pediatric and young adult patients with IDH-WT DG. (C)
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B-Raf proto-oncogene (BRAF) mutation testing (V600) may be performed in DG that are IDH-WT and H3-WT. (C)
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MYB proto-oncogene (MYB)/ MYB-like (MYBL1) and fibroblast growth factor receptor 1 (FGFR1) testing may be performed in children and young adults with DG that are histologic grade 2-3 and are IDH-WT and H3-WT. (C)
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Recommendation Grading

Overview

Title

Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas

Authoring Organizations

Publication Month/Year

February 17, 2022

Last Updated Month/Year

February 12, 2024

Document Type

Guideline

Country of Publication

US

Document Objectives

To develop evidence-based recommendations for informing molecular biomarker testing for pediatric and adult patients with DGs and provide guidance for appropriate laboratory test and biomarker selection for optimal diagnosis, risk stratification, and prediction.

Inclusion Criteria

Male, Female, Adolescent, Adult, Child, Older adult

Health Care Settings

Ambulatory, Hospital, Laboratory services, Outpatient

Intended Users

Nurse, nurse practitioner, physician, physician assistant

Scope

Diagnosis, Assessment and screening

Diseases/Conditions (MeSH)

D005910 - Glioma, D015415 - Biomarkers, D014408 - Biomarkers, Tumor

Keywords

biomarkers, Molecular Biomarkers, brain cancer, Gliomas

Source Citation

Brat DJ, Aldape K, Bridge JA, Canoll P, Colman H, Hameed MR, Harris BT, Hattab EM, Huse JT, Jenkins RB, Lopez-Terrada DH, McDonald WC, Rodriguez FJ, Souter LH, Colasacco C, Thomas NE, Yount MH, van den Bent MJ, Perry A. Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas. Arch Pathol Lab Med. 2022 Feb 17. doi: 10.5858/arpa.2021-0295-CP. Epub ahead of print. PMID: 35175291.

Supplemental Methodology Resources

Data Supplement, Methodology Supplement

Methodology

Number of Source Documents
196
Literature Search Start Date
November 13, 2017
Literature Search End Date
July 24, 2020