1. What is the role of genetic testing in patients with ovarian cancer?
GEMSTONE Educational Case Summary
Last Update: June 23, 2018
GEMSTONE, a committee of ovarian cancer experts, provided direction and approval of the hypothetical patient scenario presented in this educational resource. TESARO, Inc. provided writing and organizational support to GEMSTONE in the generation of this material.

2. Case Objectives
Review current recommendations regarding germline genetic testing in women with ovarian cancer, including who to test, when to test, and what tests should be performed
Review recommended somatic genetic testing in women with ovarian cancer
Discuss how genetic test results affect treatment planning for women with ovarian cancer
Review how to navigate the conversation with patients about genetic testing and how the results may affect their prognosis and care
Assess potential challenges in genetic testing, such as tissue availability, need for repeat biopsy, and likelihood of negative results

3. Patient History and Baseline Characteristics
Age
48 years
Gravidity and parity
G2P2
Occupation
Flight attendant
Medical history
Premenopausal; diabetes mellitus type 2; history of infertility
Family history
Prostate cancer in father; ovarian cancer in paternal aunt
Baseline Characteristics
Performance status
Symptoms
Abdominal distention, pelvic pressure, generalized abdominal pain
Comorbidities
Diabetes mellitus type 2
G, gravida (pregnancy); P, para (birth).

4. Laboratory Tests, Imaging, and Biomarkers
Laboratory Testing
Liver function
Normal
Renal function
CBC findings
Chemistry findings
Other
None performed
Imaging
CT Scan: C/A/P
Biomarkers Testing
BRCA1
Wild-type
BRCA2
Germline mutation
CA-125 (<35 U/mL)
1233 U/mL
Other tests
CEA: Normal CA-19-9: Normal CA-27.29: Normal
BRCA, breast cancer susceptibility gene; CA, cancer antigen; C/A/P, chest, abdomen, pelvis; CBC, complete blood count; CEA, carcinoembryonic antigen; CT, computed tomography.

5. Surgical Interventions, Findings, and Diagnosis
Diagnostic laparoscopy
Determination of unresectable disease
Peritoneal and omental biopsy
Findings
Frozen section: Poorly differentiated carcinoma, consistent with high-grade serous ovarian cancer
Disease involving bilateral diaphragm, porta hepatis, mesenteric infiltration, extensive pelvic disease
Diagnosis & Staging
Stage IIIC high-grade serous carcinoma

6. Primary Treatment and Outcomes
Treatment Outcomes
No evidence of disease by examination, CA-125 levels, and imaging
Posttreatment
Monitor with physical examination and CA-125 levels every 3 mo
Primary Treatment
Neoadjuvant IV carboplatin and paclitaxel
Interval debulking to optimal resection (TAH/BSO, omentectomy) to R0
Adjuvant IV carboplatin and paclitaxel
×3 cycles
×3 cycles
BSO, bilateral salpingo-oophorectomy; CA, cancer antigen; IV, intravenous; R, residual tumor classification; TAH, total abdominal hysterectomy.

7. First Recurrence: Detection, Treatment, Outcomes, and Maintenance
Recurrence 19 mo following completion of first-line treatment
CT reveals pelvic mass and evidence of carcinomatosis
Symptoms include difficulty with bowel movements, diffuse abdominal pain
Examination reveals abdominal distention and a 10-cm mass on pelvic examination
Recurrence Treatment
IV carboplatin and paclitaxel every 3 weeks
Treatment Outcomes
CR by examination, CT scan, and CA-125 levels
Maintenance Treatment
PARP inhibition
×6 cycles
CA, cancer antigen; CR, complete response; CT, computed tomography; IV, intravenous; PARP, poly ADP ribose polymerase.

8. Key Discussion Questions?
Key Discussion Questions
When should genetic testing be performed?
Should genetic testing be performed more than once during a patient’s treatment course?
What are the recommended tests used for ovarian cancer treatment decisions?
What challenges affect implementation of routine genetic testing and the interpretation of results?
How do you talk to patients about genetic testing?
What is the role of genetic counselors in the care of patients with ovarian cancer?

9. GEMSTONE
GEMSTONE, a committee of ovarian cancer experts, provided direction and approval of the material in this educational resource. TESARO, Inc. provided writing and organizational support to GEMSTONE in the generation of this material.
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