GenPath logo in conjunction with oncology

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: 635-4)

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

OnkoSightTM Glioma Panel (8 genes) (Test Code: J634-7)

The OnkoSightTM NGS Glioma Panel consists of 8 genes (BRAF, EGFR, IDH1, IDH2, NRAS, PIK3CA, PTEN, TP53) that may have clinical actionability in brain tumors, especially as they relate to treatment selection in recurrent GBM patients.

OnkoSightTM is GenPath’s proprietary Next-Generation Sequencing (NGS) that offers:

  • High clinical utility: Includes all gene mutations listed on national guidelines with clear therapeutic, diagnostic, or prognostic importance
  • Cost-effective: Optimizes efficiency and provides significant cost savings over competitor products
  • Low QNS rate: Works with the most degraded of samples, ensuring that as many patients as possible who undergo a procedure for pathology testing have access to tumor profiling
  • Accepted specimens: In addition to Formalin Fixed Paraffin Embedded (FFPE) samples, Diff-Quick and Papanicolaou Stained Cytology Smear Slides are also accepted.
Sensitivity & Specificity*>99.9% at the listed Limit of Detection
Limit of Detection4% allelic burden for SNVs, insertions, and deletions
Depth of CoverageAverage: 2500x, Minimum at any loci: 250x
FFPE DNA InputAs low as ~1 ng (range of 0.5 – 20 ng)
Turnaround Time5-10 days

*If DNA meets laboratory quality control standards for degradation and quantification
From receipt of acceptable specimen in the laboratory

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Principles of Brain Tumor Pathology. National Guidelines Central Nervous System Cancers, Version 1. 2017.
  6. Niklas, T., Simone, K., Friedrich, W.K. Personalized treatment strategies in glioblastoma: MGMT promoter methylation status. Onco Targets Ther. 2016; 6:1363-1372.
  7. Sung-Hye, P., Jaekyung, W., Seong-Ik, K., et al. Molecular Testing of Brain Tumor. J Pathology Transl Med 2017; 51: 205-223.