From the Guidelines
Early diagnosis of ovarian cancer is best achieved through a combination of clinical examination, serum CA-125 measurement, and transvaginal ultrasound, with definitive diagnosis requiring pathological examination of a tumour sample from a diagnostic biopsy or surgical specimen. The diagnosis of ovarian cancer involves several key methods, including a detailed history and clinical examination, serum CA-125 measurement, and transabdominal and transvaginal ultrasound by an expert examiner 1. While CA-125 is a commonly used marker, it is only elevated in approximately 50% of early-stage cases and may also be elevated in non-gynaecological malignancies and benign conditions. Measuring serum carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 levels in addition to CA-125 may help distinguish primary mucinous ovarian tumours from a gastrointestinal metastasis. Initial imaging should comprise pelvic ultrasound and computed tomography (CT) of the thorax, abdomen, and pelvis to complete clinical staging and aid surgical planning.
- Key diagnostic methods include:
- Clinical examination
- Serum CA-125 measurement
- Transvaginal ultrasound
- Computed tomography (CT) of the thorax, abdomen, and pelvis
- Pathological examination of a tumour sample from a diagnostic biopsy or surgical specimen
- Women at high risk due to family history or genetic mutations (BRCA1, BRCA2) may require more intensive screening, including regular CA-125 testing and transvaginal ultrasounds starting at younger ages.
- Persistent symptoms like bloating, pelvic pain, difficulty eating, and frequent urination should be reported to healthcare providers promptly, as these can be subtle signs of ovarian cancer. The most recent and highest quality study, published in 2023, provides guidance on the diagnosis, treatment, and follow-up of newly diagnosed and relapsed epithelial ovarian cancer, and recommends a comprehensive diagnostic work-up, including clinical examination, serum marker measurement, and imaging studies 1.
From the Research
Methods for Diagnosing Early Ovarian Cancer
There are several methods being researched and developed for the diagnosis of early ovarian cancer, including:
- Biomarker panels, such as HE4, Glycodelin, MMP7, SLPI, Plau-R, MUC1, Inhibin A, PAI-1, and CA125, which have shown promise in detecting early-stage ovarian cancer 2
- Imaging-based biomarkers, such as contrast-enhanced ultrasound, which can detect aberrant vascularity required for tumor growth before the development of a mass 3
- Genetic and epigenetic biomarkers, which are being explored as potential diagnostic tools for early-stage ovarian cancer 4
- Proteomic technologies, which have led to the identification of hundreds of previously unknown proteins unique to the pathophysiology of ovarian cancer 3
Limitations of Current Diagnostic Methods
Current diagnostic tools, such as pelvic examination and standard ultrasound, are inadequate to detect early-stage epithelial ovarian cancer 3
- CA125 and transvaginal ultrasound monitoring in high-risk women cannot prevent the diagnosis of advanced ovarian cancer 5
- The sensitivity and specificity of current biomarker panels and imaging techniques are not yet sufficient to detect early-stage ovarian cancer reliably 6, 2
Emerging Methods and Technologies
Emerging methods, such as novel protein, genetic, epigenetic, and imaging-based biomarkers, and advanced diagnostic technologies, are being developed to improve the detection of early-stage ovarian cancer 4