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Updated: Feb 25, 2026
A Cognitive Fusion-guided Prostate Biopsy Using Multiparametric Magnetic Resonance Imaging and Transrectal Ultrasound
Published on: March 21, 2025
Molecular alterations in prostate cancer and association with MRI features
D Lee1, J Fontugne2,3, N Gumpeni4
1Department of Urology, Weill Cornell Medicine and New York-Presbyterian, New York, NY, USA.
Background:
Multiparametric magnetic resonance imaging (mpMRI) has been increasingly used for prostate cancer (PCa). Recent studies identified distinct molecular subclasses of PCa with recurrent genomic alterations. However, the associations between molecular alterations in PCa and characteristics on mpMRI are unknown. Therefore, the objective of this study was to investigate recurrent molecular alterations in PCa and their associations with mpMRI features.
Methods:
Sixty-two PCa nodules >0.5 cm had a preoperative mpMRI. Nodules were evaluated for ERG rearrangement, PTEN deletion, SPINK1 overexpression, SPOP mutation and CHD1 deletion. Each PCa focus was matched to the corresponding location on mpMRI. Lesions were scored by single observer according to the PI-RADSv2 scale.
Results:
Of the 62 nodules, 22 (35.5%) were ERG positive, 6 (9.7%) had SPINK1 overexpression, 6 (9.7%) had SPOP mutations, 4 (6.5%) had CHD1 deletions and 1 (1.6%) had PTEN deletion. All of the nodules with CHD1 deletions were not visible on mpMRI (P=0.037). All of the nodules with SPINK1 overexpression were visible on mpMRI, although the association was not statistically significant (P=0.06). There were no significant associations between any molecular alteration with the severity of the PI-RADS scores (all P>0.05).
Conclusions:
This investigation represents the first description of an association between recurrent molecular alterations and the characterization of PCa nodules on mpMRI. This study can be considered hypothesis-generating for future studies to rigorously evaluate the association of specific PCa molecular subclasses with imaging features and potentially define specific subsets of PCa for which the utility of MRI is higher or lower.
Insights
Multiparametric MRI (mpMRI) for prostate cancer (PCa) shows molecular alterations are not consistently associated with imaging features. Some CHD1 deletions were linked to nodules not visible on mpMRI, suggesting potential imaging utility differences.
Area of Science:
- Oncology
- Radiology
- Genomics
Background:
- Multiparametric magnetic resonance imaging (mpMRI) is crucial for prostate cancer (PCa) detection.
- Distinct molecular subclasses of PCa with recurrent genomic alterations are recognized.
- Associations between PCa molecular alterations and mpMRI characteristics remain largely unknown.
Purpose of the Study:
- To investigate recurrent molecular alterations in PCa.
- To explore associations between these molecular alterations and mpMRI features.
Main Methods:
- Sixty-two PCa nodules (>0.5 cm) underwent preoperative mpMRI.
- Nodules were assessed for ERG rearrangement, PTEN deletion, SPINK1 overexpression, SPOP mutation, and CHD1 deletion.
- PCa foci were correlated with mpMRI locations and scored using PI-RADSv2.
Main Results:
- 22% were ERG positive, 9.7% had SPINK1 overexpression, 9.7% had SPOP mutations, 6.5% had CHD1 deletions, and 1.6% had PTEN deletion.
- All CHD1 deletion nodules were not visible on mpMRI (P=0.037).
- No significant associations were found between molecular alterations and PI-RADS scores.
Conclusions:
- This study is the first to describe associations between molecular alterations and PCa nodule characterization on mpMRI.
- Findings are hypothesis-generating for future research on PCa molecular subclasses and imaging features.
- Potential to define PCa subsets with varying mpMRI utility based on molecular profiles.
