What are the recommended screening and prevention measures for someone with a family history of testicular cancer?

Screening and Prevention Measures for Individuals with a Family History of Testicular Cancer

For individuals with a family history of testicular cancer, awareness of risk and self-examination are recommended, though formal screening programs are not currently supported by evidence. 1

Risk Assessment

Family history of testicular cancer is a significant risk factor, with affected first-degree relatives (father or brothers) increasing risk 4-9 times compared to the general population 2. Other risk factors to consider include:

• Prior history of testicular cancer
• Cryptorchidism (undescended testicles)
• Testicular dysgenesis
• Infertility
• Caucasian ethnicity
• Cannabis use
• Genetic conditions such as Klinefelter syndrome 1, 3

Recommended Approach

Screening Recommendations

1. Patient Education:

   • Inform individuals with family history about their increased risk 4
   • Discuss signs and symptoms of testicular cancer (painless testicular mass, scrotal heaviness, dull ache)
   • Emphasize the importance of prompt medical attention for any testicular abnormalities 3

2. Testicular Self-Examination (TSE):

   • While the American Cancer Society and USPSTF do not recommend routine TSE for the general population 4, individuals with family history may benefit from awareness
   • Research shows TSE practices are sub-optimal even in high-risk populations 2
   • Consider monthly self-examinations, though optimal frequency is not definitively established 4

3. Clinical Examinations:

   • No evidence supports routine clinical screening examinations for asymptomatic men, even those with family history 4
   • The USPSTF specifically recommends against routine screening in asymptomatic males due to low incidence and high cure rates (Grade D recommendation) 4, 1

Diagnostic Approach for Suspicious Findings

If testicular abnormalities are detected, the following diagnostic approach is recommended:

1. Immediate Evaluation:

   • Testicular ultrasonography (using 7.5 MHz transducer) 4
   • Serum tumor markers: AFP, β-HCG, LDH 4, 1

2. Referral to Urology:

   • Prompt referral for any confirmed intratesticular mass 5
   • Radical inguinal orchiectomy for definitive diagnosis and initial treatment 3, 6

Important Considerations

• High Curability: Testicular cancer has excellent survival rates (>90%) even when detected at symptomatic stages 4, 3
• Fertility Preservation: Discuss sperm banking before any treatment if testicular cancer is diagnosed 1, 5
• Follow-up: If diagnosed, regular monitoring is essential with abdominal imaging for at least 5 years 1

Pitfalls to Avoid

• Delayed Diagnosis: Misclassifying testicular masses as epididymitis or attributing back pain (from metastatic disease) to musculoskeletal issues 4
• Over-screening: Excessive screening may lead to unnecessary anxiety and procedures without improving outcomes 4
• Neglecting Symptoms: Despite recommendations against routine screening, any testicular symptoms warrant prompt evaluation 4

While formal screening programs for individuals with family history of testicular cancer are not currently supported by evidence, awareness of increased risk and prompt evaluation of any abnormalities remain the cornerstone of early detection in this population.