PIK3CA Mutation CDx – Tissue is an FDA-approved qualitative companion diagnostic assay performed on DNA extracted from FFPE breast tissue to detect 11 mutations in exons 7, 9, and 20 of the PIK3CA gene. Completion of the PIK3CA Mutation CDx Test Request Form with provider’s signature is required for this CDx test.

Alternate Name: QIAGEN therascreen® PIK3CA RGQ PCR

disease state indication(s)
Breast Cancer

clinical use
This test is intended to identify PIK3CA mutations in patients with advanced hormone receptor-positive, HER2-negative (HR+/HER2-) breast cancer who may be candidates for therapy with the PI3Kalpha-specific inhibitor PIQRAY® (alpelisib).

In results from the phase III SOLAR-1 study, patients with PIK3CA mutations and prior endocrine therapy had significantly improved progression-free survival when treated with alpelisib and fulvestrant compared to fulvestrant alone (11.0 vs. 5.7 months). Patients without a PIK3CA mutation did not obtain the survival benefit of alpelisib found in the mutation-positive group.

Approximately 70% of breast cancer cases are HR+/HER2-, and approximately 40% of these carry a PIK3CA mutation.

1. therascreen® PIK3CA RGQ PCR [package insert]. Hilden, Germany: QIAGEN; document ID coming soon
2. Andre F, Ciruelos E, Rubovszky G, et al. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer. N Engl J Med. 2019;380(20):1929-1940.
3. Sabine V, Crozier C, Brookes C, et al. Mutational analysis of PI3K/AKT signaling pathway in tamoxifen exemestane adjuvant multinational pathology study. J Clin Oncol. 2014;32:2951-2958

methodology/product platform
Polymerase chain reaction (PCR)

specimen type and requirements
Preferred: One (1) formalin-fixed, paraffin-embedded (FFPE) block containing breast tumor tissue (either primary or metastatic).
Acceptable Alternative: Six to twelve (6-12) unstained slides for core needle biopsy (or 5-10 slides for resection) cut at 5 µm thickness, plus accompanying H&E slide.
Unacceptable: Non-breast tumors are not accepted for this test. Specimens preserved in alternative (non-formalin) fixatives, decalcified specimens, fresh or frozen tissue are unacceptable.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.

turnaround time
Global (TC & PC): 7 to 10 days

cpt code(s)
Please inquire for Testing Program details.

medicare moldx cpt code
Not applicable

regulatory classification
FDA approved

ordering option
Global (TC & PC)