Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Testing of tumors by next generation sequencing (NGS) is impacted by relatively long turnaround times and a need for highly trained personnel. Recently, Idylla oncology assays were introduced to test for BRAF, EGFR, KRAS, and NRAS common hotspot mutations that do not require specialized trained personnel. Moreover, the interpretation of results is fully automated, with rapid turnaround time. Though Idylla testing and NGS have been shown to have high concordance in identifying EGFR, BRAF, KRAS, and NRAS hotspot mutations, there is limited experience on optimal ways the Idylla system can be used in routine practice. We retrospectively evaluated all cases with EGFR, BRAF, KRAS, or NRAS mutations identified in clinical specimens sequenced on two different NGS panels at the University of Rochester Medical Center (URMC) molecular diagnostics laboratory between July 2020 and July 2021 and assessed if these mutations would be detected by the Idylla cartridges if used. We found that the Idylla system could accurately identify Tier 1 or 2 actionable genomic alterations in select associated disease pathologies if used. Yet, in a minority of cases, we would have been unable to detect NGS-identified pathogenic mutations due to their absence on the Idylla panels. We derived algorithmic practice guidelines for the use of the Idylla cartridges. Overall, Idylla molecular testing could be implemented either as a first-line standalone diagnostic tool in select indications or for orthogonal confirmation of uncertain results.

Informatics driven quality improvement in the modern histology lab.

Laboratory Information Systems (LIS) and data visualization techniques have untapped potential in anatomic pathology laboratories. Pre-built functionalities of LIS do not address all the needs of a modern histology laboratory. For instance, "Go live" is not the end of LIS customization, but just the beginning. After closely evaluating various histology lab workflows, we implemented several custom data analytics dashboards and additional LIS functionalities to monitor and address weaknesses. Herein, we present our experience in LIS and data-tracking solutions that improved trainee education, slide logistics, staffing/instrumentation lobbying, and task tracking. The latter was addressed through the creation of a novel "status board" akin to those seen in inpatient wards. These use-cases can benefit other histology laboratories.

An Incidental Diffuse Midline Glioma Found at Autopsy.

This case shows an unexpected midline glioma found at autopsy. Two siblings were riding on a single bicycle on the side of a road. The 13-year-old brother was seated and steering the bicycle, while the 14-year-old sister held onto the back. The bicycle veered left into traffic and was struck by a vehicle. The siblings were admitted to the local Level 1 trauma center, but both later succumbed to injuries. Autopsies were performed on the children, including brains for neuropathologic evaluation. The brother was found to have an infiltrating astrocytoma located in the left middle cerebellar peduncle, with extension to the pons and medulla. His hospital course included several imaging studies using CT and MRI modalities. However, this lesion was not identified until the postmortem neuropathologic examination. This rare case shows the continued need for postmortem autopsy and the current limitations of medical imaging.