Cergentis and collaborators publish a method for accurate and automatic detection of clinically relevant translocations in tumor biopsies

Cergentis, a genomics company that develops and commercializes kits and services based on its proprietary Targeted Locus Amplification (TLA) technology, today announced the completion of a successful analytical validation study in lymphoma to show the benefits of TLA for the detection of clinically relevant translocations in tumor biopsies. The results of this study, performed in collaboration with researchers from Hubrecht Institute and lymphoma experts of 5 Dutch pathology labs (UMCU, Amsterdam UMC, UMCG, LUMC and LabPON), have now been published in Nature Communications.

The FFPE-TLC approach promises to revolutionize lymphoma diagnostics and as the technology fits a standard targeted NGS workflow and allows for detection of all clinically relevant mutations, both small and large, in a single diagnostic test. This is especially relevant for precious needle biopsies with limited material available, opening opportunities to improve diagnoses and patient treatments for many more cancer types.

With the help of the EU Horizon 2020 SME grant, awarded in 2018, and its partners, Cergentis has successfully developed the TLA technology specifically for formalin-fixed paraffin-embedded (FFPE) tumor biopsies: FFPE-TLC. FFPE-TLC technology employs the inherent DNA crosslinking and fragmentation of FFPE tissue which, combined with conventional capture enrichment and next generation sequencing (NGS), allows to detect large structural variation in the DNA of a tumor sample over much wider genomic regions than standard NGS technologies, improving robustness and sensitivity. The PLIER algorithm, developed in parallel, allows for automated detection of these structural rearrangements from FFPE-TLC NGS data, providing a major step forward in this field.

The published study shows that FFPE-TLC has clear advantages over FISH (fluorescence in situ hybridization) analysis, the most common used method for translocation detection in lymphoma diagnostics, yielding more information, showing better sensitivity and higher resolution. Prof. Daphne de Jong, hematopathologist at Amsterdam University Medical Centre and one of the collaborators:

“The FFPE-TLC approach can greatly improve lymphoma diagnostics and promises to be the hoped-for alternative for cumbersome FISH analyses.”

FFPE-TLC proves to be a robust assay which also has clear benefits over targeted NGS methods as it provides an automated analysis workflow and enables detection of translocations independent of the exact fusion sequence.

“We are very proud of the results of this technological breakthrough. In collaboration with thought leaders at Hubrecht Institute and renowned clinical institutions, we have demonstrated the value of FFPE-TLC technology for cancer diagnostics.”

Joris Schuurmans, CEO of Cergentis, stated.

“With this recognition in hand we are set out to make the technology available for use in pathology labs to help improve diagnosis of patients suffering from lymphoma and other cancer types.”

Source: Cergentis (Press release)