Whole-Genome Sequencing Identifies Patient-Specific DNA Minimal Residual Disease Markers in Neuroblastoma

PCR-based detection of minimal residual disease (MRD) in neuroblastoma is currently based on RNA markers; however, expression of these targets can vary, and only paired-like homeobox 2b has no background expression. We investigated whether chromosomal breakpoints, identified by whole-genome sequencing (WGS), can be used as patient-specific DNA MRD markers. WGS data were used to develop large numbers of real-time PCRs specific for tumors of eight patients. These PCRs were used to quantify chromosomal breakpoints in primary tumor and bone marrow samples.

Source: Journal of Molecular Diagnostics - October 24, 2014 Category: Pathology Authors: Esther M. van Wezel, Danny Zwijnenburg, Lily Zappeij-Kannegieter, Erik Bus, Max M. van Noesel, Jan J. Molenaar, Rogier Versteeg, Marta Fiocco, Huib N. Caron, C. Ellen van der Schoot, Jan Koster, Godelieve A.M. Tytgat Tags: Regular Article Source Type: research