Related Experiment Video
Updated: Sep 30, 2026
A Cognitive Fusion-guided Prostate Biopsy Using Multiparametric Magnetic Resonance Imaging and Transrectal Ultrasound
Published on: March 21, 2025
Clinical and MRI characteristics of germline pathogenic variant carriers diagnosed with prostate cancer
Rory L Cochran1,2, Madhangi Parameswaran3,4, Nabih Nakrour3,4
1Department of Radiology, Massachusetts General Hospital, Mass General Brigham, Boston, MA, USA. rcochran@mgh.harvard.edu.
Objectives:
Compare the clinical and imaging features of prostate cancer (PCa) patients harboring a germline pathogenic variant (PV) to sporadic controls.
Materials And Methods:
A single-center retrospective case-control study was performed by identifying patients with positive germline genetic testing for a PV diagnosed with prostate cancer between December 2015 and October 2025. Clinical, pathologic, and MRI characteristics of PV carriers were compared to a control group of consecutive patients diagnosed with PCa over 1 year. Mann-Whitney U-test was used for continuous data and Fisher's exact test for categorical comparisons.
Results:
A total of 62 patients with PCa harboring ≥ 1 PV and an MRI at diagnosis were compared to 246 controls. The most frequent genes were Lynch syndrome (LS) associated (17.7%), CHEK2 (21.0%), ATM (17.7%), and BRCA2 (19.4%). Median age of PV carriers was not significantly younger than controls at diagnosis (65 years [IQR, 58-71], vs 67 years [61-73], p = 0.05). The proportion of patients with a positive MRI (PI-RADS ≥ 3) did not differ between groups (98% PV vs 96% control, p = 0.70). PV carriers were more likely to receive a PI-RADS 5 score (OR: 2.7; CI: 1.5-4.9, p < 0.01) and grade 3 extra-prostatic extension (OR: 3.0; CI: 1.5-5.8, p < 0.01). At prostatectomy, the proportion of patients reclassified to a higher-grade group was larger for PV carriers (37% vs 20%, p = 0.046).
Conclusion:
PV carriers with PCa tend to manifest more aggressive imaging findings and are more likely to experience pathologic upgrading at prostatectomy.
Key Points:
Question Differences in the clinical and imaging characteristics of sporadic prostate cancer (PCa) patients compared to patients harboring a PCa-associated germline pathogenic variant remain understudied. Findings PV carriers with PCa manifest more aggressive imaging features and are more likely to demonstrate pathologic upgrading at prostatectomy. Clinical relevance Knowledge of the unique clinical and imaging manifestations of hereditary PCa should support ongoing early detection studies and underscore the need for radiologists to be familiar with patient-centered early detection strategies utilizing MRI.
