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Necessity in genetic testing of glioma

Glioma is the most common type of primary brain tumor. It has high recurrence and mortality rates. Accurate classification plays a guiding role in subsequent treatments. In 2016, the WHO Classification of Tumors of the Central Nervous System first introduced classification of CNS tumors integrated with histological phenotypes and genotyping, setting up new roles for molecular classification in clinical diagnosis and treatment. Clinical treatment of glioma involves surgery in combination with radiotherapy and chemotherapy. A variety of targeted drugs are being tested in clinical trials. High-throughput genetic tests can detect multiple gene variants at once, providing clinical evidence for the use of targeted drugs.

  • Molecular classification guidelines

    In 2016, the WHO Classification of Tumors of the Central Nervous System introduced classification of CNS tumors with brand new diagnostic standards by integrating histological and molecular classifications. The new guidelines provide opportunities for new treatments.

  • Predicting chemotherapy efficacy

    Chemotherapy remains an important treatment for cancer. Sensitivity to temozolomide, a chemotherapy drug for gliomas, is correlated with the methylation level of the MGMT gene (O6—guanine-DNA-methyl transferase). Measuring the methylation level of the MGMT gene guides the chemotherapy with temozolomide.

  • Matching targeted therapy options

    Currently, bevacizumab has been approved for the treatment of glioblastoma in the United States and Japan. Common gene mutations on three pathways for primary glioblastoma have been identified, including receptor tyrosine kinase RTK/RAS/PI3K, p53 signaling pathway and RB signaling pathway. With new genomic discoveries and reduced sequencing cost, high-throughput sequencing (NGS) technologies provide great opportunities for precise treatment of glioma.

  • Clinical trial enrollment

    A limited number of targeted therapies are available for the treatment of glioma, with more in clinical trials. Using NGS technology, the molecular profiles of patients can be used for matching clinical trials, maximizing options and hope for cancer patients.

  • Molecular classification guidelines

    In 2016, the WHO Classification of Tumors of the Central Nervous System introduced classification of CNS tumors with brand new diagnostic standards by integrating histological and molecular classifications. The new guidelines provide opportunities for new treatments.

  • Predicting chemotherapy efficacy

    Chemotherapy remains an important treatment for cancer. Sensitivity to temozolomide, a chemotherapy drug for gliomas, is correlated with the methylation level of the MGMT gene (O6—guanine-DNA-methyl transferase). Measuring the methylation level of the MGMT gene guides the chemotherapy with temozolomide.

  • Matching targeted therapy options

    Currently, bevacizumab has been approved for the treatment of glioblastoma in the United States and Japan. Common gene mutations on three pathways for primary glioblastoma have been identified, including receptor tyrosine kinase RTK/RAS/PI3K, p53 signaling pathway and RB signaling pathway. With new genomic discoveries and reduced sequencing cost, high-throughput sequencing (NGS) technologies provide great opportunities for precise treatment of glioma.

  • Clinical trial enrollment

    A limited number of targeted therapies are available for the treatment of glioma, with more in clinical trials. Using NGS technology, the molecular profiles of patients can be used for matching clinical trials, maximizing options and hope for cancer patients.

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Recommendations

2016 WHO Classification of CNS Tumors


• First to introduce classification of CNS tumors integrating histological and molecular classifications.

• In case of inconsistency between histological and molecular classifications, molecular classification is preferred.

• In terms of nomenclature, description of genetic status is added, such as "diffuse astrocytoma, IDH mutation," "glioblastoma, IDH wild-type."

• Diffuse gliomas (oligodendroglioma, astrocytoma, oligoastrocytoma and glioblastoma) are classified based on IDH, 1p19q, ATRX and TP53 mutation status.

2015 NCCN Tumor Clinical Practice Guidelines: Tumors of the CNS


• 1p19q loss of heterozygosity (LOH) is a favorable prognosis factor for oligodendroglioma. IDH1/2 mutations are favorable prognosis factor for low-grade gliomas.

• Patients with MGMT promoter methylation and low MGMT expression are sensitive to DNA alkylating agents (temozolomide) and may have better survival.

2014 ESMO Clinical Practice Guidelines: Diagnosis, treatment and follow-up of high-grade gliomas


Tests for IDH1/2 mutations, 1p19q LOH, and MGMT promoter methylation level are recommended for the diagnosis, prognosis and efficacy evaluation of high-grade gliomas.

2015 Chinese Guidelines for the Diagnosis and Treatment of CNS Glioma


• Molecular markers are important in molecular classification, personalized treatment and prognosis evaluation. 

• These important molecular markers include MGMT promoter methylation level, 1p19q LOH, IDH1 mutations and ATRX mutations. Other commonly used molecular markers are: GFAP, Ki67 antigen and p53 protein expression (level I evidence).



2014 Chinese Guidelines for the Molecular Diagnosis and Treatment of Glioma



• Gliomas with the same or similar histological features may have different molecular markers, leading to a discrepancy in prognosis between individuals with same WHO grade classification.

• The guidelines recommend that molecular markers including IDH1/2, 1p19q LOH, MGMT promoter methylation level, EGFR amplification, EGFR VIII rearrangement, PTEN mutation, TP53 mutation, BRAF fusion, BRAF mutations, Ki67 and miR-181d should be used for diagnosis, evaluation of prognosis and treatment of glioma.

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