Abstract 3732: Detecting germline PTEN mutations among at-risk cancer patients: An age and gender-specific cost effectiveness analysis
Ngeow, J; Liu, C; Zhou, K; Frick, K; Matchar, DB; Eng, C
Published in: Cancer Research
IntroductionCowden syndrome (CS) is an autosomal dominant disorder characterized by benign and malignant tumours. One-quarter of patients diagnosed with CS have pathogenic germline PTEN mutations, which increase risks of breast, thyroid, uterine, renal and other cancers. PTEN testing and regular, intensive cancer surveillance allow for early detection and treatment of these cancers for mutation positive patients and their relatives. Individual CS-related features, however, occur commonly in the general population, making it challenging for clinicians to identify CS-like patients to offer PTEN testing.Methods:We calculated the cost per mutation detected and analyzed the cost-effectiveness of performing selected PTEN testing among CS-like patients using a semi-quantitative score [PTEN-Cleveland Clinic (CC) score] compared with existing diagnostic criteria. In our model, first-degree relatives of the patients with detected PTEN mutations are offered PTEN testing. All individuals with detected PTEN mutations receive cancer surveillance.Findings:CC score at a threshold of 15 (CC15) allows costs ranging from $3,720 to 4,573 to detect one PTEN mutation, which is the lowest among different strategies tested. At a cost-effectiveness threshold of $100,000/Quality Adjusted Life Year (QALY), CC15 is the optimal strategy for female patients older than 50 years while CC10 is the optimal strategy for female patients younger than 50 years old and male patients of all ages. These results are robust in one-way sensitivity analyses. In probabilistic sensitivity analysis, CC10 and CC15 are the optimal strategies in 73% and 21% of the simulations respectively at a willingness to pay $100,000/QALY.Conclusion:CC score as a clinical risk calculator is a cost-effective pre-screening method to identify CS-like patients for PTEN germline testing.Citation Format: Joanne Ngeow, Chang Liu, Ke Zhou, Kevin Frick, David B. Matchar, Charis Eng. Detecting germline PTEN mutations among at-risk cancer patients: An age and gender-specific cost effectiveness analysis. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 3732. doi:10.1158/1538-7445.AM2015-3732
