What is the workup and management for a patient presenting with symptoms suggestive of ovarian cancer?

Ovarian Cancer Symptoms and Workup

The standard workup for patients with suspected epithelial ovarian cancer must include a detailed history, clinical examination, serum CA-125, transvaginal/transabdominal ultrasound, CT of thorax/abdomen/pelvis, and pathological examination of tumor samples. 1

Symptoms

Most women are diagnosed based on symptoms, with the majority presenting at an advanced stage due to the lack of reliable screening methods 1. Common symptoms include:

• Abdominal/pelvic pain 1
• Constipation or diarrhea 1
• Urinary frequency 1
• Vaginal bleeding 1
• Abdominal distension and fatigue 1
• In advanced disease: bloating, nausea, anorexia, dyspepsia, early satiety due to ascites and abdominal masses 1
• Respiratory symptoms from pleural effusions in cases with thoracic extension 1

Diagnostic Workup Algorithm

1. Initial Assessment

• Detailed history focusing on risk factors (family history of ovarian/breast cancer, BRCA mutations, Lynch syndrome) 1
• Clinical examination to detect pelvic masses or ascites 1

2. Laboratory Tests

• Serum CA-125 (elevated in ~85% of advanced disease but only ~50% of early-stage cases) 1
• For suspected mucinous carcinoma: Serum CEA and CA 19-9 (especially if CA-125/CEA ratio is ≤25/1) 1
• Consider endoscopy if CEA or CA 19-9 is elevated to rule out gastrointestinal metastasis 1

3. Imaging Studies

• Transabdominal and transvaginal ultrasound by an expert examiner 1
  • US-based diagnostic models (IOTA Simple Rules or IOTA ADNEX) are superior to CA-125, HE4, or Risk of Ovarian Malignancy Algorithm 1
• CT scan of thorax, abdomen, and pelvis for complete clinical staging and surgical planning 1

4. Definitive Diagnosis

• Pathological examination of adequate tumor sample from either:
  • Diagnostic biopsy, or
  • Preferably, surgical specimen 1
• Cytological assessment of pleural effusion if present 1

Special Considerations

Histological Subtypes

Different subtypes may require specific considerations:

• For mucinous carcinoma: Additional gastrointestinal tract evaluation and CEA level to distinguish between primary ovarian tumors and metastases 1
• For germ cell tumors (common in younger patients): Measure AFP, β-hCG, and LDH 1

Genetic Testing

• Consider genetic testing for patients with:
  • Family history of ovarian/breast cancer (BRCA1/2 mutations) 1
  • Lynch syndrome (mismatch repair genes) 1

Common Pitfalls to Avoid

• Misinterpreting CA-125 levels: CA-125 is not specific to ovarian cancer and may be elevated in non-gynecological malignancies and benign conditions (e.g., endometriosis, ovarian cysts) 1
• Inadequate imaging: Relying solely on ultrasound without CT for complete staging 1
• Insufficient tissue sampling: Obtaining inadequate tumor samples for pathological examination, especially if neoadjuvant chemotherapy is planned 1
• Overlooking symptoms: Many symptoms are nonspecific, leading to delayed diagnosis; maintain high suspicion in women with persistent symptoms 2
• Missing mucinous carcinoma origin: Failing to distinguish between primary mucinous ovarian tumors and gastrointestinal metastases 1

Management After Diagnosis

Once diagnosed, treatment typically involves:

• For early-stage disease: Surgery (hysterectomy, bilateral salpingo-oophorectomy, omentectomy, lymphadenectomy) followed by adjuvant chemotherapy with carboplatin and paclitaxel 2, 3, 4
• For advanced-stage disease: Primary cytoreductive surgery and adjuvant chemotherapy or neoadjuvant chemotherapy followed by cytoreductive surgery 2
• Maintenance therapy with targeted agents for advanced disease 2

The 5-year survival rate varies significantly by stage: 70-95% for early-stage disease versus 10-40% for advanced-stage disease 2.