Comprehensive genetic testing for neurological cancers

Supporting patient care through molecular and cytogenetic testing

Mayo Clinic is recognized worldwide for providing care for complex diseases, including brain tumors. With rapid technological advancements and medical discoveries, the standard approach to genetic testing is evolving. Mayo Clinic Laboratories is at the leading edge of testing innovation and offers both MayoComplete next-generation sequencing (NGS) and chromosomal microarray testing to complement standard morphological and histological assessment.

In a clinical study of adult glioma patients, comprehensive molecular and cytogenetic analysis resulted in significant — and sometimes unexpected — patient impact.

Clinical relevance: Findings in glioma patients

In a Mayo Clinic study of adult glioma patients, comprehensive molecular and cytogenetic analysis resulted in a significant positive impact on patients. Of 400 patients seen, 75% received diagnostic, prognostic, and/or predictive information.

75%

of patients received one or more clinically actionable findings as a result of comprehensive molecular and cytogenetic testing

45%

of cases reported diagnostic findings

34%

of cases reported prognostic findings

54%

of cases reported predictive findings

NGS analysis to detect mutations and rearrangements

Our NGS panel is part of our suite of MayoComplete NGS panels. It evaluates mutations and rearrangements in 160 genes, including most abnormalities described by the World Health Organization 20211 classifications. Our panel (Mayo ID: NONCP) 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

  • Simultaneously tests for multiple 2021 WHO diagnostic/grading molecular biomarkers, including mutations and fusions.
  • Includes abnormalities described in adult-type and pediatric-type brain tumor patients.
  • Offers increased sensitivity to detect lower-level tumor purity.
  • Includes only clinically relevant genes selected for diagnostic, prognostic, and theranostic associations.

New gene panel enhances brain tumor profiles

Cristiane (Cris) Ida, M.D., explains how Mayo Clinic Laboratories' updated neuro-oncology gene panel provides more clinically relevant information for managing adult and pediatric brain tumors.

Learn more

Chromosomal microarray to detect copy number variants

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

  • 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.

Chromosomal microarray better informs brain tumor diagnosis

Molecular biomarkers are a critical component in the treatment of adult and pediatric brain tumors. Robert Jenkins, M.D., Ph.D., explains how Mayo Clinic Laboratories' chromosomal microarray provides more comprehensive and accurate tumor analysis compared with other test methods.

Learn more

Testing to predict therapy response

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

Learn more about how to order these evaluations at your institution.

References

  1. WHO Classification of Tumours Editorial Board, Central nervous system tumours. Lyon (France): International Agency for Research on Cancer, 5th 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.