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9/1/2018

Evaluation and Management of an Ovarian Mass in a Patient with a Family History of Ovarian Cancer

Increasing age is the most important risk factor for ovarian cancer in the general population. However, a family history of breast or ovarian cancer is the most important personal risk factor.

Family history, including hereditary cancer risk assessment, should be completed for all patients.  Family history indicative of a hereditary cancer syndrome includes a first or second degree relative with breast cancer before age 50, ovarian or pancreatic cancer at any age, triple negative breast cancer at age <60 years, male breast cancer, metastatic prostate cancer, Ashkenazi descent, and a relative with a known hereditary cancer gene. Genetic susceptibility should also be suspected if the patient or a family member is diagnosed with two primary cancer diagnoses (the first <50 years) or if there are three relatives with breast cancer.

Certain types of cancer confers an increased risk and include triple-negative breast cancer as well as colorectal and endometrial cancer with DNA mismatch repair deficiency. The lifetime risk of ovarian, fallopian tube, or peritoneal cancer increases markedly elevated in patients with BRCA 1 & 2 mutations, Lynch and Peutz-Jeghers syndromes. Other specific genes associated with ovarian cancer include BRIP1,RAD51C, and RAD51D. Any patient with suspected susceptibility should be referred for genetic counseling by a cancer genetics specialist and possible genetic testing.  Genetic testing includes assessment for BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53

For patients with BRCA and Lynch mutations, risk-reducing bilateral salpingo-oophorectomy is recommended after completion of childbearing between ages 35 and 45, depending on the specific mutation. During risk-reducing bilateral salpingo-oophorectomy, the focus of surgical techniques ensures complete removal of tubal and ovarian tissue, thorough visualization of peritoneal surfaces, and peritoneal washings. This includes opening the retroperitoneum, ligating the infundibulopelvic ligament at the pelvic brim, and amputating the fallopian tube at its insertion on the uterus.  The evaluation for occult malignancy involves extensive surgical pathological sectioning of each specimen.

An adnexal mass, in the setting of a known or suspected germline cancer susceptibility, elicits a higher suspicion for malignancy and a lower threshold for surgical intervention than for an average risk patient.  Regardless of risk stratification, evaluation begins with pelvic sonography to evaluate the mass for findings concerning for carcinoma with adjunctive measurement of tumor markers (CA 125 or HE 4).  Surgical evaluation and removal is recommended (versus observation) for many benign and indeterminate appearing lesions, and all suspicious masses. 

 

Further Reading:

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Gynecology. Practice Bulletin No. 174: Evaluation and Management of Adnexal Masses. Obstet Gynecol. 2016 Nov;128(5):e210-e226. doi: 10.1097/AOG.0000000000001768. PMID: 27776072.

Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology. Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome.  Obstet Gynecol. 2017 Sep;130(3):e110-e126. doi: 10.1097/AOG.0000000000002296.

AlHilli MM, Pederson HJ. Controversies in Hereditary Cancer Management. Obstet Gynecol. 2021 May 1;137(5):941-955. doi: 10.1097/AOG.0000000000004364. PMID: 33831930.

Initial Approval March 2018; Reaffirmed January 2020; Revised September 2021. Revised September 2023. Revised May 2025.

 

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