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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 tumors arising in the central nervous system (brain and spinal cord). They originate from neuroglial cells and encompass multiple distinct subtypes. Accurate subcategorization based on histological and molecular features is essential for precise diagnosis, prognosis, and treatment decision-making.

Gene Table

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

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

9 fusion transcripts
ALKFGFR1FGFR2FGFR3NTRK1NTRK2NTRK3RETROS1

MSI
MGMT methylation status by Real Time PCR
1p19q status by FISH

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 test supports accurate differential diagnosis of gliomas by helping identify the tumor type. This is critical, as different glioma subtypes require distinct treatment approaches and are associated with different prognoses.

  • Prognosis: The test supports prognostic assessment by identifying molecular features associated with clinical outcomes.

  • Prediction of treatment response: The test identifies clinically relevant biomarkers associated with response to targeted and systemic therapies, supporting personalized treatment strategies.

Gliogene® Test Specifications

The test uses advanced 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?

Gliogene contributes to the comprehensive molecular characterization of gliomas by identifying key genomic alterations in a heterogeneous group of central nervous system tumors.

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