Germline variant carriers had more PI-RADS 5 lesions and more upgrading

Design

Retrospective single-centre case-control study

Population

62 germline pathogenic variant carriers and 246 sporadic prostate cancer controls

Primary outcome

MRI features and pathological upgrading

Effect

PI-RADS 5 OR 2.7 (1.5–4.9); upgrading 37% vs 20%

This single-centre case-control study, published in European Radiology on 28 September, compared 62 men with prostate cancer carrying a germline pathogenic variant, most often in CHEK2, BRCA2, ATM or Lynch syndrome genes, with 246 consecutive men with sporadic cancer. All had MRI at diagnosis.

Nearly all men in both groups had a positive MRI (PI-RADS 3 or more). Carriers were more likely to have PI-RADS 5 lesions (OR 2.7) and grade 3 extraprostatic extension (OR 3.0). At prostatectomy, 37% of carriers were upgraded against 20% of controls.

For radiologists, a known germline variant on the request form is a reason to look harder at extraprostatic extension, and to expect the biopsy grade to underestimate disease. It is a small retrospective study, and the gene groups were too small to analyse separately.

• Ask whether the patient has a known germline variant; it is often missing from the request.
• Scrutinise extraprostatic extension carefully in variant carriers.
• Flag to the urology team that biopsy grade may underestimate disease in carriers.
• Do not assume a negative MRI is less likely in carriers; positivity rates were similar.

Why it matters

Hereditary prostate cancer may look more aggressive on MRI, which should shape how the report is read.

Don't overread it

A small single-centre case-control study; controls came from a different time window.

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