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
Approximately 95% of uterine cancers are carcinomas (cancer of the superficial tissue or the lining of organs). 5% of uterine cancers are sarcomas, a more aggressive and often less curable cancer.
Sarcomas refers to tumors which are usually malignant and arise from connective tissue and are often named after the type of cell involved in the tumor (e.g. bone – osteo, vascular – angio, fat – lipo etc.)
Risk for development of uterine cancer by age 70 is approximately 2.7% (Reference Kowin A et al. OB/GYN 125, No. 1 2015).
Relative risk for 1st degree relatives of the patient with uterine or colorectal cancer is approximately 3.5%.
Mutations in the DNA mismatch repair genes (MSH2, MSH6, MLH1, PMS1, PMS2) also associated with Familial Hereditary Non Polyposis Colorectal Carcinoma (HNPCC) and STK11, EPCAM, KRAS, P53, and PTEN mutations have been associated with uterine cancer and increased familial susceptibility.
Microsatellite instability as seen in HNPCC is usually only demonstrated in one type of familial uterine cancer (Endometrial Cancer) and is not usually seen in the second main category of uterine cancer (Uterine Serous Carcinoma).
Kras mutations may be seen prior to the development of true endometrial cancer. Atypical endometrial hyperplasia, believed to precede many cases of uterine cancer, may also demonstrate Kras mutations.
P53 mutations are commonly present in Endometrial Carcinoma, and when present, may be associated with a more aggressive type of uterine cancer with a worse prognosis.
Symptoms of Uterine Cancer:
- Heavy, irregular and prolonged bleeding
- Bleeding after the menopause
Screening for Uterine Cancer:
- Transabdominal or transvaginal ultrasound may show a thickened endometrium
- Endometrial biopsy or dilatation and curettage (scraping) of the uterus will usually be diagnostic
Treatment of Uterine Cancer:
- Occasionally atypical uterine cells will be detected in a pap smear which is primarily used to detect cancer of the cervix
- Hormonal treatment (progesterone therapy) may be used to attempt to get atypical cells to return to normal. If progesterone therapy is used, these patients need to be observed closely for the return of atypical cells
- Usually hysterectomy with the removal of fallopian tubes and ovaries is curative
- Chemotherapy and/or irradiation may be used preoperatively or postoperatively