MRD & ctDNA Markers
Minimal residual disease (MRD) testing
Testing for minimal residual disease (MRD) is routine in paediatric leukaemia and Cergentis supports multiple leading paediatric hospitals in personalised MRD test development.
TLA uniquely enables detection of gene fusion breakpoint sequences at nucleotide resolution. Since gene fusions in leukaemia are known to be cancer-driving, clonal events, these breakpoint sequences are ideal markers for sensitive and quantitative MRD testing with PCR.
Circulating tumour DNA (ctDNA) testing
Solid tumours shed DNA and recent years have seen a surge in interest in the use of ctDNA testing on liquid biopsies as part of cancer diagnosis. The most developed and promising application is the use of ctDNA levels to monitor disease progression after initial surgery and/or therapy. Such tests can further help select patients that require, or do not require, therapy and a change of therapy after resistance to an initial treatment occurs.
For reasons sketched above, breakpoint sequences of driving rearrangements are also ideal targets for personalised ctDNA testing with PCR.
For example, TMPRSS2-ERG fusions are found in approximately 50% of prostate cancers. There is currently no targeted therapy available, and fusion detection is therefore less relevant for diagnostics. However, since TMPRSS2-ERG fusions are known to be cancer-driving, clonal events, using TLA for detection of the breakpoint sequences at nucleotide resolution creates ideal markers for sensitive ctDNA testing with PCR.
Cancers caused by viruses, such as cervical cancers, frequently have unique integration sites of the virus into the host genome, and breakpoints of these integration sites can serve as monitoring markers.
Other cancers with recurrent SVs, such as colorectal cancer, may benefit from this strategy as well.
Become a testing partner
We are currently further validating this application. Please contact us if you would like to become a testing partner.
- Application notes
- Application note on the application of TLA in gene fusion detection in pediatric leukaemia
- Application note on MRD testing using TLA data
Alimohamed MZ et al. (2018)
Cergentis & University of Groningen
Boer JM et al. (2016)
COALL, DCOG, Erasmus Medical Center, Princess Maxima Center for Pediatric Oncology, Radboud University Medical Center & University of Amsterdam
Splinter E et al. (Poster - 2016)
Cergentis, DCOG, Erasmus Medical Center, Princess Maxima Center for Pediatric Oncology & Radboud University Medical Center
Kuiper RP et al. (2015)
Cergentis, DCOG, Erasmus Medical Center, Radboud University Medical Center
Vroegindeweij EM et al. (2015)
Cergentis, Erasmus Medical Center, Ghent University, KU Leuven & Princess Maxima Center for Pediatric Oncology
TLA technology & targeted complete NGS of genes and gene fusions in leukaemia