Germline variant carriers' prostate cancers scored higher on MRI and were upgraded more often

Design

Single-centre retrospective case-control study

Population

62 prostate cancer patients with germline pathogenic variants and 246 sporadic controls

Primary outcome

Clinical, MRI and pathological characteristics

Effect

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

A single-centre case-control study compared 62 men with prostate cancer and a germline pathogenic variant — most often CHEK2, BRCA2, ATM or Lynch syndrome genes — with 246 consecutive sporadic cases, all with MRI at diagnosis.

Carriers were not significantly younger. Almost all had a positive MRI in both groups. But carriers more often had a PI-RADS 5 lesion (OR 2.7, 95% CI 1.5 to 4.9) and grade 3 extraprostatic extension (OR 3.0, 1.5 to 5.8), and were more often upgraded at prostatectomy (37% vs 20%).

This is a small retrospective study, and carriers referred for genetic testing may differ from those who are not. It supports reading carefully for extraprostatic extension when a germline variant is known.

• Ask whether a germline pathogenic variant is known when reporting a prostate MRI for staging.
• Look carefully for extraprostatic extension in known carriers, where it was more frequent.
• Mention in the report when a known carrier's biopsy grade may understate the MRI appearance.
• Do not treat this as evidence on screening carriers; it describes men already diagnosed.

Why it matters

It suggests biopsy grade may understate disease in carriers, so imaging should weigh more in staging.

Don't overread it

A small single-centre case-control study; it does not show that MRI screening benefits carriers.

The statistics, in plain English

An odds ratio of 2.7 for PI-RADS 5 means carriers' lesions were scored 5 considerably more often. With 62 carriers, the intervals are wide and the upgrade difference (P = 0.046) is only just statistically significant.

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