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Randomized Controlled Trial
. 2013;8(1):e53292.
doi: 10.1371/journal.pone.0053292. Epub 2013 Jan 2.

PIK3CA genotype and a PIK3CA mutation-related gene signature and response to everolimus and letrozole in estrogen receptor positive breast cancer

Affiliations
Randomized Controlled Trial

PIK3CA genotype and a PIK3CA mutation-related gene signature and response to everolimus and letrozole in estrogen receptor positive breast cancer

Sherene Loi et al. PLoS One. 2013.

Erratum in

Abstract

The phosphatidylinositol 3' kinase (PI3K) pathway is commonly activated in breast cancer and aberrations such as PI3K mutations are common. Recent exciting clinical trial results in advanced estrogen receptor-positive (ER) breast cancer support mTOR activation is a major means of estrogen-independent tumor growth. Hence the means to identify a responsive breast cancer population that would most benefit from these compounds in the adjuvant or earlier stage setting is of high interest. Here we study PIK3CA genotype as well as a previously reported PI3K/mTOR-pathway gene signature (PIK3CA-GS) and their ability to estimate the level of PI3K pathway activation in two clinical trials of newly diagnosed ER-positive breast cancer patients- a total of 81 patients- one of which was randomized between letrozole and placebo vs letrozole and everolimus. The main objectives were to correlate the baseline PIK3CA genotype and GS with the relative change from baseline to day 15 in Ki67 (which has been shown to be prognostic in breast cancer) and phosphorylated S6 (S240) immunohistochemistry (a substrate of mTOR). In the randomized dataset, the PIK3CA-GS could identify those patients with the largest relative decreases in Ki67 to letrozole/everolimus (R = -0.43, p = 0.008) compared with letrozole/placebo (R = 0.07, p = 0.58; interaction test p = 0.02). In a second dataset of pre-surgical everolimus alone, the PIK3CA-GS was not significantly correlated with relative change in Ki67 (R = -0.11, p = 0.37) but with relative change in phosphorlyated S6 (S240) (R = -0.46, p = 0.028). PIK3CA genotype was not significantly associated with any endpoint in either datasets. Our results suggest that the PIK3CA-GS has potential to identify those ER-positive BCs who may benefit from the addition of everolimus to letrozole. Further evaluation of the PIK3CA-GS as a predictive biomarker is warranted as it may facilitate better selection of responsive patient populations for mTOR inhibition in combination with letrozole.

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Conflict of interest statement

Competing Interests: SL and CS are named inventors on a provisional worldwide patent filed by the Université Libre de Bruxelles for the PIK3CA mutation-associated gene signature (PIK3CA-GS). TS is an employee of Novartis Pharma. All the other authors declare no conflicts of interest. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.

Figures

Figure 1
Figure 1. Receiver Operating Characteristic (ROC) curves showing the association of the PIK3CA-GS with PIK3CA mutation status. A.
Dataset A, n = 22/58 (38.5%) AUC = 0.67, 95%CI: 0.5–0.8, p = 0.04), B. Dataset B n = 6/23 (26%) AUC 0.77, 95%CI : 0.6–0.96, p =  = 0.059). C and D show the individual samples for each dataset and distinguish between sequenced kinase (exon 20- squares) and helical (exon 9-circles) mutations and wild-type (WT-black) PIK3CA.
Figure 2
Figure 2. Relative change in %Ki67 from baseline to day 15 by treatment arm.
According PIK3CA genotype in A dataset A; B dataset B According to PIK3CA-GS scores by treatment arm: regression lines for relative change in %Ki67 from baseline to day 15 C dataset A; D dataset B E Relative change in %Ki67 from baseline to day 15 by treatment arm and according to increasing tertiles of the PIK3CA-GS in dataset A; F Number of Absolute D15 responders by treatment arm and according to increasing tertiles of the PIK3CA-GS in dataset A.
Figure 3
Figure 3. Regression lines for relative change in %Ki67 from baseline to day 15 according to PIK3CA-GS scores by treatment arm by PIK3CA genotype in dataset A. A
PIK3CA WT; B PIK3CA mutant Relative change in %Ki67 from baseline to day 15 by treatment arm and according to increasing tertiles of the PIK3CA-GS by PIK3CA genotype in dataset A C PIK3CA WT; D PIK3CA mutant.
Figure 4
Figure 4. Associations between PIK3CA-GS and relative change in phosphorylated S6. A
Dataset B: relative percentage change in pS6 (S240) as measured by IHC from baseline to day 15 according PIK3CA genotype B Regression line for relative change in pS6 from baseline to day 15 according to PIK3CA-GS in dataset B C Dataset A: Relative percentage change in phosphorylated S6 (S240) as measured by IHC from baseline to day 15 according PIK3CA genotype and treatment arm.

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