Brain Cancer Molecular Offering
To provide the relevant diagnostic information for brain cancer patients and assist clinicians with effective patient management, GenPath offers a series of guideline-based molecular assays.
1p/19q Co-Deletion (Test Code: A311-3)
1p/19q co-deletion is a well-established tumor cell-specific chromosomal abnormality in oligodendrogliomas.1 The combined loss of the 1p and 19q is a favorable prognostic indicator associated with good response to treatment and higher survival rates in gliomas.2,3,4
MGMT Promoter Methylation (Test Code: J817-8)
MGMT methylation is a clinically important DNA methylation marker in glioblastoma (GBM).5 MGMT encodes for a DNA repair enzyme that inhibits DNA damage caused by alkylating agents, resulting in tumor resistance.6 MGMT promoter methylation status indicates an increase in efficacy of standard treatment and is considered to be the most accurate predictive factor for survival during procarbazine/lomustine/ vincristine (PCV) chemotherapy.5,7
IDH1/IDH2 Sequencing by NGS (Test Code: J635-4)
Isocitrate dehydrogenase (IDH) is an important metabolic enzyme involved in epigenetic modification. Together with 1p/19q co-deletion and MGMT promoter methylation, the presence of IDH1/IDH2 mutation is a favorable prognostic marker associated with better survival for patients treated with radiation or alkylator chemotherapy, but not for untreated patients.6
OnkoSight AdvancedTM Central Nervous System (CNS) NGS Panel (Test Code: TH57-3)
The OnkoSight Advanced NGS panel for CNS tumors consists of 27 genes and clinical genomic biomarkers- tumor mutation burden (TMB), and tumor-only microsatellite instability (MSI). Actionable, targeted, and tumor-specific gene content is aligned with the latest National Comprehensive Cancer Network (NCCN) and World Health Organization (WHO) guideline recommendations.
OnkoSight Advanced Key Advantages:
- Industry-leading Turnaround Time
- OnkoSight Advanced provides actionable results in about 4-10 days (upon receipt of specimen at the laboratory) for timely initiation of medical management
- High Clinical Utility
- Targeted, tumor-specific NGS panel includes all gene mutations with clear therapeutic, diagnostic, or prognostic value and those for which there are late-stage clinical trial options
- Optimize efficiency and provide significant cost saving compared to similar tests in the market
- Minimal DNA input requirement
- OnkoSight Advanced effectively utilize tumor samples. The DNA input requirement for OnkoSight Advanced (40ng) is approximately half that of other commercially available NGS assays employing similar hybrid capture NGS technology, and utilize unique molecular indices to reduce sequencing error by up to 10-20 fold
- Customized NGS report
- Clinicopathologic data is routinely factored into final interpretation for all detected variants
- Detected variants are classified and reported following AMP/ASCO/CAP recommendations
- Reporting of detected variants include therapeutic associations with FDA-approved therapies for cancer
Entire exonic coding regions and selected introns are broadly covered among genes targeted for analysis. Coverage of whole exonic coding regions represents an improvement over targeted hotspot approaches and minimizes the risk of potential false negatives due to lack of coverage across clinically relevant genomic loci.
- Jiang, H., Zhang, Z., Ren X, et al. Tumor cell-specific chromosomal abnormality in the vascular endothelial cells of anaplastic oligodendroglioma. J Neurosurg 2016 Oct; 125(4):995-1001.
- Jenkins, R.B., Blair, H., Ballman, K.V., et al. A t(1;19)(q10;p10) mediates the combined deletions of 1p and 19q and predicts a better prognosis of patients with oligodendroglioma. Cancer Research 66(20):9852-9861.
- Sennetta, R., Verdun di Cantogno ,L., Chiusa, L., et al. A “weighed” flourescence in situ hybridization strengthens the favorable prognostic value of 1p/19q codeletion in pure and mixed oligodendrogial tumors. J Neuropathol Exp Neurol 72(5):432-441.
- Snuderl, M., Eichler, A., Ligon, K.L., et al. Polysomy for chromosomes 1 and 19 predicts earlier recurrence in anaplastic oligodendrogliomas with concurrent 1p/19q loss. Clin Cancer Res 15 (20):6430-6437. 2009.
- Principles of Brain Tumor Pathology. National Guidelines Central Nervous System Cancers, Version 1. 2017.
- Niklas, T., Simone, K., Friedrich, W.K. Personalized treatment strategies in glioblastoma: MGMT promoter methylation status. Onco Targets Ther. 2016; 6:1363-1372.
- Sung-Hye, P., Jaekyung, W., Seong-Ik, K., et al. Molecular Testing of Brain Tumor. J Pathology Transl Med 2017; 51: 205-223.