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May 28, 2020
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Robust Detection of Translocations in FFPE Biopsies with TLA-based NGS: Application in Lymphoma Diagnostics


Amsterdam University Medical Center

Director, Tumor Genome Analysis Core,
Amsterdam University Medical Center

Accurate detection of translocations is important for diagnosis, prognosis, and therapy decisions in aggressive B-cell lymphomas. 

Currently, lymphoma diagnostics is predominantly performed with fluorescence in situ hybridization (FISH), which is labor-intensive, can be difficult to interpret, and does not always reveal the fusion partner. Alternatives based on next generation sequencing (NGS) are being tested, but the robust detection of structural variants remains a challenge.

The Targeted Locus Amplification (TLA) technology selectively enriches and sequences entire genes based on proximity ligation and enables the comprehensive detection of structural variants in genes of interest. Because TLA is based on the crosslinking and fragmenting of DNA, it has particular advantages in the analysis of crosslinked formalin-fixed, paraffin-embedded (FFPE) samples.

In this webinar, our first speaker, Daphne de Jong of Amsterdam University Medical Center, will explain the important role of genetic information in lymphoma diagnostics, as well as the limitations of current technologies. 

The second speaker, Bauke Ylstra of Amsterdam UMC, will then present the results of a study performed on more than 100 lymphoma FFPE samples from several clinical sites with a TLA-based panel assay.

The study shows that:

  • TLA is more sensitive than FISH and detects small distance fusions not detected by FISH.
  • TLA detects structural variants in areas that are difficult to target or to sequence with standard targeted NGS methods.
  • TLA is easy to execute and enables a single, DNA-based test for detection of all clinically relevant single nucleotide variants and translocations.

As will be presented, TLA-based NGS promises to be a robust alternative for translocation analysis in lymphoma diagnostics and in other cancers.

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