Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience

Publication date: Available online 6 July 2018Source: The Journal of Molecular DiagnosticsAuthor(s): Agnes Balla, Ken J. Hampel, Mukesh K. Sharma, Catherine E. Cottrell, Nikoletta SidiropoulosAbstractBiopsy specimens are subjected to an expanding portfolio of assays that regularly include mutation profiling via next-generation sequencing (NGS). Specimens derived from fine needle aspiration, a common biopsy technique, are subjected to a variety of cytopreparatory methods as compared to surgical biopsies that are almost uniformly processed as formalin-fixed, paraffin-embedded tissue. Therefore, fine needle aspiration–derived specimens most commonly accepted for molecular analysis are cell blocks (CB) as they are processed most similarly to surgical biopsy tissue. CB preparations however are fraught with challenges risking unsuccessful sequencing and repeat biopsies with the potential to further increase healthcare costs and delay clinical care. The diversity of cytopreparations and the resource-intensive clinical validation of NGS poses significant challenges to more consistent utilization of non–cell block (NCB) cytology specimens. As part of clinical validation of a targeted NGS assay, DNA subjected to nine cytopreparatory methods was evaluated for sequencing performance and was demonstrated as uniformly acceptable for clinical NGS. Of the 379 clinical cases analyzed post-validation, the majority (56%) were derived from NCB cytology specimens. This specimen class had the ...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research