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Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.

Publication ,  Journal Article
Ngeow, J; Liu, C; Zhou, K; Frick, KD; Matchar, DB; Eng, C
Published in: J Clin Oncol
August 10, 2015

PURPOSE: Cowden syndrome (CS) is an autosomal dominant disorder characterized by benign and malignant tumors. One-quarter of patients who are diagnosed with CS have pathogenic germline PTEN mutations, which increase the risk of the development 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. PATIENTS AND 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 (the 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 are offered cancer surveillance. RESULTS: CC score at a threshold of 15 (CC15) costs from $3,720 to $4,573 to detect one PTEN mutation, which is the most inexpensive among the different strategies. At base-case, CC10 is the most cost-effective strategy for female patients who are younger than 40 years, and CC15 is the most cost-effective strategy for female patients who are between 40 and 60 years of age and male patients of all ages. In sensitivity analyses, CC15 is robustly the most cost-effective strategy for probands who are younger than 60 years. CONCLUSION: Use of the CC score as a clinical risk calculator is a cost-effective prescreening method to identify CS-like patients for PTEN germline testing.

Duke Scholars

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Published In

J Clin Oncol

DOI

EISSN

1527-7755

Publication Date

August 10, 2015

Volume

33

Issue

23

Start / End Page

2537 / 2544

Location

United States

Related Subject Headings

  • United States
  • Population Surveillance
  • PTEN Phosphohydrolase
  • Oncology & Carcinogenesis
  • Neoplasms
  • Middle Aged
  • Male
  • Humans
  • Hamartoma Syndrome, Multiple
  • Germ-Line Mutation
 

Citation

APA
Chicago
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MLA
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Ngeow, J., Liu, C., Zhou, K., Frick, K. D., Matchar, D. B., & Eng, C. (2015). Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. J Clin Oncol, 33(23), 2537–2544. https://doi.org/10.1200/JCO.2014.60.3456
Ngeow, Joanne, Chang Liu, Ke Zhou, Kevin D. Frick, David B. Matchar, and Charis Eng. “Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.J Clin Oncol 33, no. 23 (August 10, 2015): 2537–44. https://doi.org/10.1200/JCO.2014.60.3456.
Ngeow J, Liu C, Zhou K, Frick KD, Matchar DB, Eng C. Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. J Clin Oncol. 2015 Aug 10;33(23):2537–44.
Ngeow, Joanne, et al. “Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.J Clin Oncol, vol. 33, no. 23, Aug. 2015, pp. 2537–44. Pubmed, doi:10.1200/JCO.2014.60.3456.
Ngeow J, Liu C, Zhou K, Frick KD, Matchar DB, Eng C. Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. J Clin Oncol. 2015 Aug 10;33(23):2537–2544.

Published In

J Clin Oncol

DOI

EISSN

1527-7755

Publication Date

August 10, 2015

Volume

33

Issue

23

Start / End Page

2537 / 2544

Location

United States

Related Subject Headings

  • United States
  • Population Surveillance
  • PTEN Phosphohydrolase
  • Oncology & Carcinogenesis
  • Neoplasms
  • Middle Aged
  • Male
  • Humans
  • Hamartoma Syndrome, Multiple
  • Germ-Line Mutation