As a treating physician, you want to decide on the best treatment for your patients. Genetic profiling can be a useful tool in addition to tumor typing, grading, and staging. With Next-Generation Sequencing, we can detect relevant mutations. If a tumor shows a mutation that is highly responsive to treatment, the patient may benefit from targeted therapy. Knowledge of mutation status will help to reduce the number of ineffective treatments given, sparing patients unnecessary toxicity and expenses.

Benefits of Next-Generation Sequencing  

  • Mutation status assessment of all relevant genes in a single experiment
  • Only a minimum amount of tissue is needed
  • Relatively low expenses
  • We aim to return all gene testing results within 1 week

Techniques  

Our Next-Generation Sequencing techniques include:

  • Ion Torrent: a pH-mediated next-generation sequencer that reads the base order by measuring pH changes after the incorporation of a specific nucleotide.
  • Ion Chef: a robot for preparing patient materials in a standardized manner and loading the libraries onto the sequencing chips. This machine reduces the number of manual steps and potential (human) errors.
  • Sequencing chips: chips on which millions of sequencing reactions can be executed in parallel, facilitating measurement of all relevant genes within a few hours.
  • Ion Reporter: Standardized analysis software specifically designed for the Iron Torrent technology.
  • Laboratory: CCKL/ISO-accredited molecular laboratory.

The key to targeted therapy  

At Pathology-DNA, you can request various standard gene panels to optimize your diagnosis for targeted therapy and differential diagnosis purposes. Besides testing the standard indicated genes (as listed below), we can also detect mutations in additional genes that may become important in the near future and are still being tested in clinical trials.

Targeted therapy  

Lung cancer: KRAS, EGFR, BRAF, ERBB2, MEKI, PIK3CA, ALK

Colorectal cancer: KRAS, NRAS, BRAF, PIK3CA

Melanoma: BRAF, NRAS, KIT

Gastrointestinal stromal tumors: KIT, PDGFRA, BRAF

Breast cancer: ERBB2, PIK3CA

Thyroid cancer: BRAF, KRAS, NRAS, HRAS

Differential diagnostics  

Relatedness multiple tumors (investigation second primary tumor or metastasis): TP53, CDKN2A + gehele Cancer Hotspot Panel (50 genen).

Papillary thyroid cancer: BRAF

Low-grade glioma: IDH1, IDH2

Uveal melanoma and spitzoid nevi: BRAF, NRAS, HRAS, KIT, GNAQ, GNA11

Desmoid tumors: CTNNB1

Langerhans cell histiocytosis: BRAF

Hairy-cell leukemia: BRAF

New developments  

At present, Pathology-DNA is working on::

  • Centralization of molecular techniques and knowledge to boost quality and efficiency
  • Keeping abreast of modern diagnostics to anticipate the discovery of novel mutations or targeted agents
  • Expansion of the NGS portfolio for even more complete molecular diagnostics
    • Detection of translocations and fusion genes
    • Analysis of copy number variation (amplifications and deletions)
    • Development of a specific panel for lymphoma diagnostics
    • B-cell and T-cell clonality testing (at present still done by fragment analysis)

Reference  

Specific needs?  

Please speak to our molecular biologists about any other specific gene testing needs you may have.

Contact us: moleculair@pathologie-dna.nl