Advanced genetic testing for neuro-oncology
Next-generation sequencing and chromosomal microarray for comprehensive analysis in brain tumors
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. 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.
of patients received one or more clinically actionable findings as a result of comprehensive molecular and cytogenetic testing
of cases reported diagnostic findings
of cases reported prognostic findings
of cases reported predictive findings
NGS analysis to detect mutations and rearrangements
Our next-generation sequencing panel evaluates mutations and rearrangements in 187 genes, including all abnormalities described for both adult and pediatric brain tumors by the World Health Organization 2016 classifications. NONCP includes assessment of mutations in 118 genes, and rearrangements in 81 genes including 104 fusions and 29 transcript variants.
A Test in Focus
Robert Jenkins, M.D., gives an overview of the neuro-oncology expanded gene panel. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.
Chromosomal microarray to detect copy number variants
Chromosomal microarray provides high-resolution assessment of copy number variations across the genome. This includes superior analysis of the 1p/19q deletion in gliomas. Additionally, microarray detects abnormalities such as the gain of chromosome 7, loss of chromosome 10, and EGFR amplification. According to recently 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. Copy number variations can also further clarify or support diagnosis and provide information useful for prognosis.
A Test in Focus
Robert Jenkins, M.D., gives an overview of CMA testing for gliomas. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.