What are the typical presentation and diagnostic approach for testicular cancer?

Testicular Cancer Presentation and Diagnostic Approach

Clinical Presentation

The most common presentation of testicular cancer is a painless testicular mass or nodule, which occurs in the majority of cases and should prompt immediate evaluation. 1, 2, 3

Primary Presentations

• Painless testicular mass: The hallmark presentation, found in most patients at diagnosis 1, 2, 3
• Scrotal pain: Present in approximately 27% of cases, often indicating more advanced disease 2
• Incidental finding on ultrasound: Increasingly common with routine imaging 1
• Back or flank pain: Occurs in approximately 11% of cases, typically signaling retroperitoneal lymph node involvement 2
• Gynecomastia: Rare presentation occurring in approximately 1% of cases, related to hCG secretion 2

Key Clinical Context

• Testicular cancer primarily affects young men aged 20-34 years, representing the most common solid malignancy in this age group 2, 3
• Approximately 90-95% of testicular cancers are germ cell tumors (GCTs) 2, 3
• Risk factors include cryptorchidism, family history, infertility, and cannabis use 2, 3

Diagnostic Approach Algorithm

Step 1: Physical Examination

Examine both testes, the abdomen, supraclavicular fossae, and chest for gynaecomastia when testicular cancer is suspected. 1

• Any solid testicular mass identified by physical exam should be managed as malignant until proven otherwise 1
• Determine whether the mass is intra-testicular (90% likelihood of malignancy) or extra-testicular (usually benign) 4

Step 2: Serum Tumor Markers (Before Any Intervention)

Draw serum tumor markers (AFP, β-hCG, and LDH) before orchiectomy or any treatment intervention. 1, 2

• These markers support diagnosis, indicate histology, and provide prognostic information 1
• Critical caveat: Normal tumor marker levels do not exclude testicular cancer due to low sensitivity 1
• Pure seminoma does not secrete AFP; elevated AFP indicates non-seminomatous histology even if pathology suggests seminoma 5

Step 3: Imaging

High-frequency (>10 MHz) scrotal ultrasound with Doppler is the mandatory first-line imaging modality. 1, 2

• Ultrasound determines whether the mass is intra-testicular or extra-testicular, assesses size, detects multifocal disease, and evaluates the contralateral testicle 1
• Do not use MRI as the initial evaluation tool 1
• Any hypoechoic mass with vascular flow on Doppler is highly suggestive of malignancy 1

Step 4: Management Based on Findings

For Confirmed Intratesticular Mass:

Proceed directly to radical inguinal orchiectomy with division of the spermatic cord at the internal inguinal ring. 1, 2

• Never use a scrotal approach, as this is associated with higher local recurrence rates 1, 6, 5
• Orchiectomy provides definitive histological diagnosis and is therapeutic 2, 3

For Indeterminate Findings with Normal Tumor Markers:

• Repeat imaging in 6-8 weeks 1
• Up to 50-80% of non-palpable or incidentally detected masses <2 cm are benign 1

Step 5: Pre-Treatment Counseling

Counsel patients about fertility preservation and offer sperm banking before any therapeutic intervention. 1, 5

• This is particularly critical for patients without a normal contralateral testis or with known subfertility 1, 5
• Discuss risks of hypogonadism and infertility before definitive management 1

Step 6: Post-Orchiectomy Marker Follow-Up

Repeat tumor markers after orchiectomy until normalization, accounting for half-life kinetics (hCG: 24-36 hours; AFP: 5-7 days). 1, 5

• Delayed decline or rising levels provide critical staging and prognostic information 1

Special Considerations

Testicular Microlithiasis

• In the absence of a solid mass and risk factors, testicular microlithiasis does not confer increased malignancy risk and does not require further evaluation 1

Testis-Sparing Surgery

• May be considered only for highly selected patients: single testicle, excellent compliance, single tumor <2 cm at lower pole, normal preoperative endocrine function 1
• Requires at least two additional biopsies from remaining testicle to exclude germ cell neoplasia in situ (GCNIS) 1

Emerging Biomarkers

• MicroRNAs (particularly miR-371a-3p) show higher discriminatory accuracy than conventional markers for diagnosis and monitoring 1, 7
• Not yet standardized for routine clinical practice 1

Critical Pitfalls to Avoid

• Never delay evaluation of persistent testicular enlargement: Delay correlates with higher stage at presentation 6
• Never perform scrotal biopsy or scrotal incision for suspected malignancy—only inguinal approach is appropriate 1, 6, 5
• Never proceed to orchiectomy without first obtaining tumor markers, as this information is essential for staging and prognosis 1, 5
• Never assume normal tumor markers exclude testicular cancer, as sensitivity is limited 1
• Never forget fertility counseling before any intervention in reproductive-age men 1, 5

Prognosis Context

• Overall 5-year survival for testicular cancer is 97% 1
• Stage-specific 5-year survival: 99% for stage I, 92% for stage II, and 85% for stage III 3
• At diagnosis, 70-75% present with stage I disease (localized), 20% with stage II (retroperitoneal nodes), and 10% with stage III (widely metastatic) 3