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Gliogene®

Modern brain tumor diagnostics rely on an integrated approach that combines traditional histopathology with key molecular and genetic markers. As defined in the WHO 2021 (5th edition) Classification of Tumors of the Central Nervous System, these molecular features are now essential elements of accurate tumour classification. Molecular profiling enhances traditional histologic assessment by adding critical diagnostic and prognostic insights that improve classification accuracy, guide treatment selection, and support informed clinical decision making. Gliogene® brings together the most clinically relevant biomarkers into a single, streamlined panel designed to support physicians at every step of the decision-making process.

What is glioma

Gliomas are a genetically, histologically and clinically heterogeneous group of tumours, located in the central nervous system (brain or spinal cord) or in the peripheral nervous system. They can grow from different types of neuroglial cells and their subcategorisation is essential for the differential diagnosis, management and treatment of patients.

Gene Table

28 gene alterations
ATRX*BRAF*CDKN2A*CDKN2B*CIC*CTNNB1*EGFR*ERBB2*FUBP1*H3F3A
HIST1H3BHIST1H3CIDH1IDH2METMYCMYCNMYD88NF1PTCH1
SMARCB1SMARCA4SMOSUFUTERTTP53TSC1TSC2

9 fusion transcripts
ALKFGFR1FGFR2FGFR3NTRK1NTRK2NTRK3RETROS1
MSI
MGMT methylation status by Real Time PCR
1p19q status by FISH

*CNV (amplification/deletion) analysis is included for these genes

The panel includes essential diagnostic biomarkers for WHO classification, which are essential for the accurate diagnosis of brain tumors, such as mutations in the IDH1/IDH2, ATRX, TP53 genes, and H3F3A gene, which encodes histone H3, as well as the 1p19q codeletion.

In addition, key predictive biomarkers such as MGMT methylation, BRAF alterations, EGFR/ERBB2 amplifications, and NTRK1/2/3, ALK, FGFR1/2/3 and RET fusions may help guide targeted treatment decisions.

Prognostic biomarkers include IDH1/IDH2 mutations, TERT promoter mutations, CDKN2A/CDKN2B deletions, MYC/MYCN amplifications, and TP53 alterations, which help estimate tumour behaviour and patient outcome.

Diagnosis-Related gene alterations, included in the panel, based on 2021 WHO classification of CNS tumors

Tumor TypeGenes Altered
Astrocytoma, IDH-mutantIDH1, IDH2, ATRX, TP53, CDKN2A/B
Oligodendroglioma, IDH-mutant, and 1p/19q-codeletedIDH1, IDH2, 1p/19q, TERT promoter, CIC, FUBP1
Glioblastoma, IDH-wildtypeIDH-wildtype, TERT promoter, EGFR
Polymorphous low-grade neuroepithelial tumor of the youngBRAF, FGFR family
Diffuse low-grade glioma, MAPK pathway-alteredFGFR1, BRAF
Diffuse midline glioma, H3 K27-alteredH3 K27, TP53, PDGFRA
Diffuse hemispheric glioma, H3 G34-mutantH3 G34, TP53, ATRX
Diffuse pediatric-type high-grade glioma, H3-wildtype, and IDH-wildtypeIDH-wildtype, H3-wildtype, PDGFRA, MYCN, EGFR
Infant-type hemispheric gliomaNTRK family, ALK, ROS, MET
Pilocytic astrocytomaKIAA1549-BRAF, BRAF, NF1
High-grade astrocytoma with piloid featuresBRAF, NF1, ATRX
Pleomorphic xanthoastrocytomaBRAF, CDKN2A/B
Subependymal giant cell astrocytomaTSC1, TSC2
Ganglion cell tumorsBRAF
Dysembryoplastic neuroepithelial tumorFGFR1
Rosette-forming glioneuronal tumorFGFR1, PIK3CA, NF1
Diffuse leptomeningeal glioneuronal tumorKIAA1549-BRAF fusion
Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)PTEN
Extraventricular neurocytomaFGFR (FGFR1-TACC1 fusion), IDH-wildtype
Spinal ependymomasNF2, MYCN
Medulloblastoma, WNT-activatedCTNNB1
Medulloblastoma, SHH-activatedTP53, PTCH1, SUFU, SMO, MYCN
Medulloblastoma, non-WNT/non-SHHMYC, MYCN
Atypical teratoid/rhabdoid tumorSMARCB1, SMARCA4
Desmoplastic myxoid tumor of the pineal region, SMARCB1-mutantSMARCB1
MeningiomasSMO, H3K27, TERT promoter, CDKN2A/B
Adamantinomatous craniopharyngiomaCTNNB1
Papillary craniopharyngiomaBRAF

Why is the Test Significant?

The test is important for the following reasons:
  • Differential diagnosis: The examination can help in the proper differential diagnosis of gliomas to determine the exact type of tumor. This is important as different types of gliomas have different treatment approaches and prognosis.

  • Forecast: The test can help in the prognosis of the disease to determine the patient’s life expectancy.

     

    Mutations identified in the IDH1,2 genes are associated with better disease prognosis and benefit from radiotherapy, while mutations in the BRAF gene have been associated with response to BRAF inhibitor therapy. Methylation of the MGMT gene promoter confers a survival advantage, particularly in older patients with high-grade gliomas. This can help patients and their families to understand the situation better and make appropriate plans.

  • Selection of the appropriate treatment: Testing can help in choosing the appropriate treatment, as certain biomarkers correlate with response to specific treatments. Simultaneous co-deletion of chromosomal regions 1p & 19q gives a favourable prognosis of the disease and is predictive of response to alkylating systemic therapy.

Gliogene® Test Specifications

The test uses modern molecular techniques such as NGS, FISH and Real-time PCR.

These technologies allow the simultaneous analysis of molecular biomarkers which, in combination with histopathological findings, provide a comprehensive picture for the better clinical management of each patient.

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Frequently Asked Questions

What types of cancer does it cover?

  • Low-grade gliomas (grade I and II):
    • Mutations in the IDH1,2 genes
    • Methylation of the MGMT gene promoter
  • High-grade gliomas (grade III and IV):
    Mutations in the IDH1,2 genes
    Mutations in the BRAF gene
    Co-deletion of chromosomal regions 1p and 19q.

     

What is the turnaround time for my results?

10 working days

What type of sample is required for the test?

For the analysis of Gliogene® we need the paraffin cube from the tumor or alternatively uncolored paraffin sections coated on slides (air-dried, not oven-dried). More specifically, we need 4 sections of 3μm and 6 sections of 10μm.

Does any public/private insurance cover the test?

For information on test cost coverage you should contact your personal insurance or our company.

 

How do I make the payment for the test?

The Customer Service Department will provide you with a unique e-banking payment code, or payment can be made by card or bank transfer.

 

How can I send my sample?

 

Genekor is responsible for all necessary procedures for the receipt and return of your sample. To arrange sample collection and return, please contact us.

How will I get my results?

 

Your results will be shared with your doctor via a secure network and to you via e-mail with a secure unique code provided by customer service.

Why do I have to sign the consent form?

 

GeneKor I.A.E. is certified according to ISO 9001:2015 (ref. 041150049) and according to ELOT ISO/IEC 27001:2013 (ref. 048190009) by TUV NORD HELLAS, which requires the written consent of each patient for the use of his/her genetic material for testing.

It is also necessary to follow data protection regulations.

How to order the test?

Our Customer Service Team is committed to answering your questions about the services offered by Genekor. If you are interested in any of the tests offered by Genekor, please contact us directly.

 

To complete the test, you are required to complete and send the Consent form that you will find here

 

If you want to send us your sample, please contact us to arrange all procedures.
CONTACT

For more scientific information please contact: scientific.support@genekor.com