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Role of tumour markers in uterine and ovarian cancers

Pictogramme horloge Emmanuelle Cart-Tanneur Pictogramme horloge April 2015

With more than 10,000 annual cases, gynaecological tumours (cervix, endometrium, ovaries) are responsible for over 5,000 deaths per year in France. Although screening for these cancers is based primarily on imaging, and while histology is the main tool for diagnosis, tumour markers remain important in post-treatment monitoring and for the early detection of recurrence.



With 3,000 to 3,500 cases each year, cervical cancer is responsible for approximately 1,000 deaths. 85% are squamous-cell carcinomas (origin: vaginal portion of cervix) and 15% are adenocarcinomas (origin: cervical canal or endocervix). According to data from the French National Cancer Institute, the average age of diagnosis is 54 years. A viral origin (HPV, human papilloma virus) of the disease has been demonstrated, and the health authorities are constantly issuing reminders for screening. Diagnosis of cervical cancer is performed primarily by means of pathology (PAP smear, cervical biopsy). The interest of tumour markers is limited to evaluating the efficacy of treatments.

They following are used in particular:

  • For squamous-cell cancers: SCC (squamous cell carcinoma) and Cyfra 21.1, which also enables early detection of recurrence
  • For adenocarcinomas: CA 125
  • Less specific: ACE and CA19-9

Cancer of the endometrium, which develops from intrauterine mucosa, is the most common gynaecological cancer in France. It affects nearly 5,000 women per year and is the cause of approximately 2,000 deaths. It generally develops after the menopause (75% of cases), and its incidence is increasing due to the ageing of the population. Diagnosis of cancer of the endometrium is performed mainly using histology (examination of a biopsy sample). There is no specific tumour marker. A baseline measurement of CA 125 may, however, be used to assess response to treatment and to guide the diagnosis in cases where regional metastasis or ovarian involvement is suspected.



There are about 4,000 cases of cancer of ovarian cancer in France each year, resulting in 3,000 deaths: as the disease is asymptomatic for a long time, it is often diagnosed at a late stage. The most important risk factor is genetic (mutation of the BRCA 1 or 2 genes).

The choice of tumour marker depends on the histological type of the cancer:

  • Mucinous epithelial tumours (15% of cases): ACE and CA 19.9, in particular in post-operative monitoring, and CA 72.4, which can be suggestive of a mucinous-type cancer, for example through its measurement in ovarian cyst fluid.
  • Serous epithelial tumours (adenocarcinomas, 85% of cases): CA 125 and HE 4 (human epididymal protein 4)

As it is not very sensitive or specific, CA 125 is unsuitable for mass screening, but when used in combination with pelvic ultrasound it provides good diagnostic sensitivity in the event of a suspicious mass. It also remains a relevant marker for post-treatment monitoring. On the other hand, HE 4, which is more sensitive in the early stages of ovarian cancer, is an early indicator of recurrence.

The combination of CA 125 and HE 4 has proven to be a more accurate indicator of malignancy than each marker used individually. This risk of malignancy is expressed through calculation of the ROMA™ score (Risk of Ovarian Malignancy Algorithm), which also takes into account menopause status.

Numerous studies have shown that the ROMA score improves the detection of ovarian cancers.

Reminder: Due to variability in reference values between different laboratories and techniques, measurement of markers in any one patient must always be performed in the same laboratory and with the same technique. 

Article reviewed in August 2017

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