Next-generation sequencing

Our neuro-oncology next-generation sequencing panel is part of our suite of MayoComplete panels. It evaluates mutations and rearrangements in 160 genes, including most abnormalities described by the World Health Organization 2021¹ classifications. Our panel includes assessment of mutations in 89 genes and rearrangements in 81 genes, including 104 fusions and 29 transcript variants.

Key testing

• NONCP | Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor

Advantages

• Provides simultaneous evaluations for genetic mutations, microsatellite instability status, and gene fusions.
• Identifies mutations and rearrangements that may support diagnosis and prognosis for patients with central nervous system tumors.
• Identifies specific mutations or rearrangements within genes known to be associated with response or resistance to cancer therapies.

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Chromosomal microarray

Chromosomal microarray provides high-resolution assessment of copy number variations across the genome. According to published guidelines, when these abnormalities are found in diffuse astrocytic gliomas, IDH wild-type, the tumor should be considered as having molecular features of glioblastoma.² Copy number variations can also further clarify or support diagnosis and provide information useful for prognosis.

Key testing

• CMAPT | Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Advantages

• Superior analysis of the 1p/19q deletion in gliomas.
• Detects abnormalities, including the gain of chromosome 7, loss of chromosome 10, and EGFR amplification.
• Simultaneously tests for multiple 2021 WHO diagnostic biomarkers, including copy number variants and amplifications.

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MGMT promoter methylation status

MGMT promoter methylation status has prognostic value for glioblastoma patients and can assist in predicting therapeutic response.

Key testing

• MGMT | MGMT Promoter Methylation, Tumor
  • Fast turnaround time.
  • Requires small amount of tissue.

Additional testing

• BRAFD | BRAF V600E/V600K Somatic Mutation Analysis, Tumor
• NTRK | NTRK Gene Fusion Panel, Tumor

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References

1. WHO Classification of Tumours Editorial Board, Central nervous system tumours. Lyon (France): International Agency for Research on Cancer, 5^th ed., vol. 6, 2021.
2. Brat DJ, Aldape K, Colman H, et al. cIMPACT-NOW update 3: recommended diagnostic criteria for “Diffused astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV.” Acta Neuropathol. 2018 Nov;136(5):805-810.