AI Article Synopsis
- - The ESMO-PMWG provided guidelines for confirmatory germline testing for presumed germline pathogenic variants (PGPVs) found in tumor-only genomic profiling, but these recommendations hadn't been tested in real-world settings until now.
- - A study reviewed records of 143 patients who underwent tumor-only genomic profiling, identifying 195 variants, of which 12 were confirmed as germline variants, while filtering through ESMO-PMWG criteria revealed that 6 out of 7 selected PGPVs were of germline origin.
- - The findings suggest that ESMO-PMWG criteria effectively help clinicians choose PGPVs likely to originate from germline sources, enhancing the validity of genomic testing in clinical practice.
Article Abstract
Background: The European Society for Medical Oncology Precision Medicine Working Group (ESMO-PMWG) published recommendations regarding confirmatory germline testing for presumed germline pathogenic variants (PGPVs) in tumor-only comprehensive genomic profiling (CGP). However, the clinical validity of these recommendations has not been investigated in a real-world practice.
Methods: Medical records of 180 consecutive patients who obtained the results of a tumor-only CGP (FoundationOne CDx, Foundation Medicine, Inc, Cambridge, MA, USA) between October 2018 and March 2020, were retrospectively reviewed. After excluding patients with no reported variants in 45 actionable genes (n = 6), or no archived germline DNA samples (n = 31), 143 patients were investigated. The PGPVs were selected from the CGP report and germline sequencing were performed using DNA samples archived in Clinical Bioresource Center in Kyoto University Hospital (Kyoto, Japan).
Results: A total of 195 variants were classified as PGPV based on the conventional criteria. Germline sequencing disclosed that 12 variants (6.2%) were of germline origin. In contrast, after filtering these 195 variants through the ESMO-PMWG recommendation criteria for confirmatory germline testing, following seven PGPVs, BRCA2 (n = 2), BRIP1 (n = 1), BAP1 (n = 1), PMS2 (n = 1), MSH2 (n = 1), and SDHB (n = 1) remained and six variants (85.7%) were confirmed to be of germline origin.
Conclusion: Our current data suggested that the application of ESMO-PMWG criteria is helpful in selecting PGPVs with a high likelihood of germline origin in a tumor-only CGP in daily clinical practice.
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| http://dx.doi.org/10.1007/s10147-022-02176-y | DOI Listing |
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