© 2017, GENASSIST, Inc.
By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
Overview: Almost all of my patients have a relative, friend or a friend of a friend of a friend who is battling ovarian cancer. The incidence of ovarian cancer is approximately 10 to 14 per 100,000 women, yet it is the fifth leading cause of cancer deaths in women.
The origin of most ovarian cancers were believed to originate from the cells on the surface of the ovaries. However, many of the tumors appear to be similar to the cells in the fallopian tubes. For years removal of otherwise normal appearing ovaries was suggested as a way to avoid cancer in the ovaries.
Knowing that surgical removal of ovaries in women with normal ovarian function usually led to the requirement for hormone replacement therapy resulted in a discussion as to the age of the woman at which to consider that option when surgery was performed for benign disease.
Recently, the discussion has shifted to whether the same protection against ovarian cancer can be achieved with removal of the fallopian tubes and conservation of the ovaries.
Women at the Greatest Risk for Ovarian Cancer Include:
- Women with one or more first and/or second degree relative(s) who had breast cancer before age 50 years
- Women with one or more first and/or second degree relative(s) who has ovarian cancer
- Women who have or have had breast cancer
- Women who have used fertility drugs for more than twelve months
- Women of Ashkenazi Jewish heritage
- Women with a first and/or second degree male relative(s) with breast cancer
- Women with a family history of Hereditary Non-Polyposis Colon Cancer (HNPCC)
- Women with a mutation in the BRCA1 and/or BRCA2 or other cancer genes
- Women with a relative with a mutation in the BRCA1 and/or BRCA2 or other cancer genes
Symptoms Suggesting the Possibility of Ovarian Cancer are “Vague” But May Include:
- Abdominal bloating
- Abdominal pain
- Changes in bowel habits
- Decreased appetite, difficulty eating
- Difficulty with urination
- Increased skirt or pant size
- Lower back pain
- Pelvic Pain or pelvic pressure
- Sensation of abdominal fullness or feeling full after eating normally
- Sensation or vaginal or rectal fullness
- Swelling of legs
Symptoms of ovarian malignancy are often very subtle and may mimic cyclic hormonal changes in a menstruating or postmenopausal woman. Abdominal and pelvic examination may detect a mass, however even in the absence of findings on examination.
Additional testing e.g. pelvic ultrasound, blood testing, computerized tomography (CT) or magnetic resonance imaging (MRI) may be indicated.
Ultrasound:
If the patient is still having menses, a GYN ultrasound should be performed within one week following the menses. If no menses, then the GYN ultrasound can be performed any time during the month. The GYN ultrasound usually takes 20-30 minutes and looks at:
- Presence or absence of fibroids
- Presence of a mass
- Presence or absence of ovarian cyst(s)
- Size of both ovaries
- Size of the uterus
- Thickness of uterine lining
Blood Tests:
Blood (serum) CA-125 has been available for many years.
However, it is non-specific and may be elevated with benign disease:
- Benign ovarian cyst(s)
- Endometriosis
- Uterine fibroids
Although CA-125 is commonly used in conjunction with pelvic ultrasound for screening in Japan and Great Britain, the United States has been more conservative in its use to attempt to avoid unnecessary surgery and its complications.
Mutations in at least 9 genes have been implicated in increasing the susceptibility to ovarian cancer. Panels for some of these mutations are becoming available.
If patients are identified as being at increased risk by family history, mutational analysis or persistent symptomatology increased diagnostic screening is probably indicated.
If a pelvic mass is identified and suspected to be ovarian, HE-4 and OVA-1 blood tests will help identify those patients at greatest risk for ovarian cancer.
The OVA-1 blood test generates a “score” to calculate the likelihood of cancer, comprises 5 blood markers including:
- Transthyretin (prealbumin)
- Apolipoprotein A1
- Beta 2 microglobulin
- Transferrin
- Cancer Antigen 125 (CA-125)
Recently, DNA in the tampons of women with a pelvic mass and open fallopian tubes identified 60% of patients with ovarian cancer (Erickson, B.T et al, OB/GYN 2014:124:881). Perhaps these advances will offer patients hope for earlier diagnosis and better cure rates.