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A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer.
Int J Breast Cancer. 2020; 2020:3759179.IJ

Abstract

PIK3CA mutation frequency varies among breast cancer (BC) subtypes. Recent evidence suggests combination therapy with the PI3K inhibitor (PI3Ki) alpelisib and endocrine therapy (ET) improves response rates and progression-free survival (PFS) in PIK3CA-mutant, hormone receptor positive (HR+) BC versus ET alone; thus, better understanding the clinical and epidemiologic elements of these mutations is warranted. This systematic review characterizes the PIK3CA mutation epidemiology, type of testing approaches (e.g., liquid or tissue tumor biopsy), and stability/concordance (e.g., consistency in results by liquid versus solid tumor sample, by the same method over time) in patients with HR+/HER2- advanced (locally unresectable) or metastatic disease (HR+/HER2- mBC) and explores performance (e.g., pairwise concordance, sensitivity, specificity, or predictive value) of respective mutation findings. A comprehensive search of PubMed/MEDLINE, EMBASE, Cochrane Central, and select conference abstracts (i.e., AACR, ASCO, SABCS, ECCO, and ESMO conferences between 2014 and 2017) identified 39 studies of patients with HR+, HER2- mBC. The median prevalence of PIK3CA mutation was 36% (range: 13.3% to 61.5%); identified testing approaches more commonly used tissue over liquid biopsies and primarily utilized next-generation sequencing (NGS), polymerase chain reaction (PCR), or Sanger sequencing. There was concordance and stability between tissues (range: 70.4% to 94%) based on limited data. Given the clinical benefit of the PI3Ki alpelisib in patients with PIK3CA mutant HR+/HER2- mBC, determination of tumor PIK3CA mutation status is of importance in managing patients with HR+/HER2- mBC. Prevalence of this mutation and utility of test methodologies likely warrants PIK3CA mutation testing in all patients with this breast cancer subtype via definitive assessment of PIK3CA mutational status.

Authors+Show Affiliations

University of Arizona College of Pharmacy, Tucson, AZ, USA.University of Arizona College of Pharmacy, Tucson, AZ, USA.University of Arizona College of Pharmacy, Tucson, AZ, USA.University of Arizona College of Pharmacy, Tucson, AZ, USA.Harvard Medical School, MA, USA.Novartis, NJ, USA.Novartis, NJ, USA.University of Arizona College of Pharmacy, Tucson, AZ, USA.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32637176

Citation

Anderson, Elizabeth J., et al. "A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer." International Journal of Breast Cancer, vol. 2020, 2020, p. 3759179.
Anderson EJ, Mollon LE, Dean JL, et al. A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. Int J Breast Cancer. 2020;2020:3759179.
Anderson, E. J., Mollon, L. E., Dean, J. L., Warholak, T. L., Aizer, A., Platt, E. A., Tang, D. H., & Davis, L. E. (2020). A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. International Journal of Breast Cancer, 2020, 3759179. https://doi.org/10.1155/2020/3759179
Anderson EJ, et al. A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. Int J Breast Cancer. 2020;2020:3759179. PubMed PMID: 32637176.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. AU - Anderson,Elizabeth J, AU - Mollon,Lea E, AU - Dean,Joni L, AU - Warholak,Terri L, AU - Aizer,Ayal, AU - Platt,Emma A, AU - Tang,Derek H, AU - Davis,Lisa E, Y1 - 2020/06/20/ PY - 2019/10/21/received PY - 2020/04/28/accepted PY - 2020/7/9/entrez PY - 2020/7/9/pubmed PY - 2020/7/9/medline SP - 3759179 EP - 3759179 JF - International journal of breast cancer JO - Int J Breast Cancer VL - 2020 N2 - PIK3CA mutation frequency varies among breast cancer (BC) subtypes. Recent evidence suggests combination therapy with the PI3K inhibitor (PI3Ki) alpelisib and endocrine therapy (ET) improves response rates and progression-free survival (PFS) in PIK3CA-mutant, hormone receptor positive (HR+) BC versus ET alone; thus, better understanding the clinical and epidemiologic elements of these mutations is warranted. This systematic review characterizes the PIK3CA mutation epidemiology, type of testing approaches (e.g., liquid or tissue tumor biopsy), and stability/concordance (e.g., consistency in results by liquid versus solid tumor sample, by the same method over time) in patients with HR+/HER2- advanced (locally unresectable) or metastatic disease (HR+/HER2- mBC) and explores performance (e.g., pairwise concordance, sensitivity, specificity, or predictive value) of respective mutation findings. A comprehensive search of PubMed/MEDLINE, EMBASE, Cochrane Central, and select conference abstracts (i.e., AACR, ASCO, SABCS, ECCO, and ESMO conferences between 2014 and 2017) identified 39 studies of patients with HR+, HER2- mBC. The median prevalence of PIK3CA mutation was 36% (range: 13.3% to 61.5%); identified testing approaches more commonly used tissue over liquid biopsies and primarily utilized next-generation sequencing (NGS), polymerase chain reaction (PCR), or Sanger sequencing. There was concordance and stability between tissues (range: 70.4% to 94%) based on limited data. Given the clinical benefit of the PI3Ki alpelisib in patients with PIK3CA mutant HR+/HER2- mBC, determination of tumor PIK3CA mutation status is of importance in managing patients with HR+/HER2- mBC. Prevalence of this mutation and utility of test methodologies likely warrants PIK3CA mutation testing in all patients with this breast cancer subtype via definitive assessment of PIK3CA mutational status. SN - 2090-3170 UR - https://www.unboundmedicine.com/medline/citation/32637176/A_Systematic_Review_of_the_Prevalence_and_Diagnostic_Workup_of_PIK3CA_Mutations_in_HR+/HER2-_Metastatic_Breast_Cancer L2 - https://doi.org/10.1155/2020/3759179 DB - PRIME DP - Unbound Medicine ER -
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