Next Generation Sequencing

As a doctor, you want the best possible treatment for your patients. The genetic profile can be a useful addition to the tumour typing, grading and staging. Moreover, based on this genetic profile of the tumour, it can be predicted whether or not a patient will benefit from a specific therapy. This knowledge also reduces the number of ineffective treatments, preventing unnecessary toxicity and high costs.

The key to targeted therapy

At Pathologie-DNA, we determine the aforementioned genetic tumour profile using next generation sequencing (NGS). For achieving this, we are in the possession of a ThermoFisher Ion GeneStudio S5 Prime System, which is used in combination with the ThermoFisher IonChef system for loading the sequencing chips. The advantages of NGS include:

  • Mutation status of all relevant genes is determined in a single experiment
  • A limited amount of tissues is sufficient
  • Relatively low costs
NGS Sequencer
NGS Sequencer 2 20160225_134126-klein

Technic

Various standard gene panels can be requested (see the overview below). In addition to standard indicated genes, there is the possibility to determine mutations in additional genes that may become important in the near future and are currently being tested in clinical studies. Information about the gene panels can be found on the PALGA website. Do you have any specific wishes or questions? Please consult with one of our molecular biologists; kmbp@jbz.nl.

Targeted therapy

  • Lung cancer DNA: KRAS, EGFR, BRAF, ERBB2
  • Lung cancer RNA: ALK, RET, ROS1, NTRK1/2/3, NRG1, MET exon 14 skipping
  • Colorectal cancer: KRAS, NRAS, BRAF
  • Melanoma: BRAF, NRAS, KIT
  • Gastrointestinal stromal tumours: KIT, PDGFRA, BRAF

Differential diagnostics

  • Relation of multiple tumours (question of second primary tumour or metastasis): whole Cancer Hotspotv2 Panel (50 genes, among which TP53 en CDKN2A)
  • Papillary thyroid cancinoma: BRAF
  • Desmoid tumour: CTNNB1
  • Lymfhoma: MYD88, CXCR4, BRAF, EZH2
  • Langerhans cell histiocytosis: BRAF, MAP2K1
  • Hairy cell leukemia: BRAF