99P - Comprehensive genomic sequencing as an ancillary diagnostic tool for pathologists

Background

In recent years, comprehensive genetic profiling (CGP) became a widespread procedure performed in many cases of metastatic and non-metastatic malignancies. Commercial CGP kits provide information covering hundreds of cancer-related genes along with additional information on genomic stability, large-scale rearrangements and tumor mutational burden. The reports generated following CGP can serve as a diagnostic tool for the characterization of tumors according to their molecular traits. Though molecular reports may influence the diagnosis, routinely they are not sent to pathologists for review, but rather to oncologists who rely on the primary pathological diagnosis. We aim to investigate the potential impact of the integration of CGP reports as an ancillary pathology diagnosis.

Methods

We analyzed 170 CGPs in our unit since its establishment and searched for cases in which the molecular data contributed to the mere pathologic diagnosis.

Results

While in most cases CGP reports either did not affect or supported the primary diagnosis, in 8 cases (4.7%) molecular data substantially affected the primary pathologic diagnosis and contributed to the mere pathologic diagnosis.

Conclusions

We conclude that CGP reports may serve as a valuable component of pathology reports and diagnosis. This is especially true in cases of unknown primary origin and other uncertain diagnoses. It is therefore suggested to routinely review CGP results with the diagnosing pathologists for reassessment. Beyond revealing potential treatment options, CGP results may affect the mere pathological diagnosis.

Editorial acknowledgement

Clinical trial identification

Legal entity responsible for the study

The author.

Funding

Has not received any funding.

Disclosure

The author has declared no conflicts of interest.