Laboratory parameters 1st order – obligatory laboratory tests:
For suspected genetic predisposition to ovarian (or breast) carcinoma:
- BRCA mutation analysis/BRCA gene status* (BRCA1* * , BRCA2* * , BRCA3/RAD51C gene); performed on formalin-fixed, paraffin-embedded (“FFPE”) tumor tissue; performed within a few days.
* For women with a BRCA mutation, the risk of developing breast cancer – over the course of a lifetime – is circa 60 to 80 percent. The risk of developing ovarian cancer is circa 40 to 60 percent for BRCA1 mutation carriers and circa 10 to 30 percent for BRCA2 mutation carriers. BRCA3 mutation carriers (RAD51C) also have a high risk of breast cancer of approximately 20 to 40 percent. * * For invasive epithelial ovarian cancer, patients with BRCA1/2 mutations have a better prognosis than non-carriers!
If epithelial ovarian cancer is suspected:
- CA 125 (detectable in up to 96% of cases) – also useful for progression assessment (does not result in prolonged survival).
- CA 72-4 (detectable in 50-80% of cases).
- CA 15-3 (detectable in 40-70% of cases).
- Calretinin (CRT) (correlates with prognosis and platinum resistance; decreases with therapy and increases again at recurrence).
- Cytokeratin 19 fragments (detectable in 30-35% of cases).
If germline stromal tumors are suspected:
- Androgens – e.g., in sertoli cell tumors.
- Estrogens – e.g., in granulosa, theca, sertoli cell tumors.
- Steroid hormones (androgens, estrogens) – e.g., in gynandroblastoma.
If germ cell tumors are suspected:
- Alpha-fetoprotein (AFP) – e.g., in endodermal sinus tumor.
- Androgens – e.g., in dysgerminoma, embryonal carcinoma, mixed germ cell tumors.
- Human chorionic gonadotropin (HCG) – in e.g. chorionic carcinoma, embryonal carcinoma.
- Estrogens – in e.g. dysgerminoma, embryonal carcinoma, mixed germ cell tumors.
Ovarian cancer screening (ROCA)
- ROCA (Risk of Ovarian Cancer Algorithm) screening-four-month serum CA-125 levels (comparing the respective curve trajectory with reference curves of healthy women) and
- Vaginal ultrasonography (transvaginal ultrasonography; ultrasound examination by means of an ultrasound probe inserted into the vagina) – annually (as far as the CA-125 turned out normal).
Study results of 4,000 women: Median follow-up of just under five years; 19 patients received a diagnosis of invasive ovarian or tubal (ovarian or fallopian tube) cancer (13 tumors by screening; 12 incidence/random). Six others were found only in the surgical specimen after indicated salpingo-oophorectomy/surgical removal of the fallopian tube and ovary); based on screening results, 162 women underwent surgery, 149 proved false-positive (95 had benign (benign) change, two had borderline ovarian tumors (subset of ovarian tumors characterized by semimalignant (semimalignant) behavior), and 52 had no pathologic change)
The U.S. Preventive Services Task Force considers screening for ovarian cancer for women with no known genetic risks to be ineffective and potentially harmful. They cite the results of the two largest screening trials from the United States (PLCO trial with with 78,216 women) and the United Kingdom (UKCTOCS with 202,638 women).
Recurrence Diagnostics
- Asymptomatic patients: If, contrary to the guideline recommendation, recurrence is suspected because of an elevated CA 125 level, further diagnostic procedures should be discussed individually with the patient. Earlier presymptomatic onset of recurrence is not associated with improved survival.
