How Is PIK3CA Mutation Treated?

Medically Reviewed on 8/10/2022
PIK3CA mutation
The FDA approved the drug Piqray (alpelisib) for the treatment of PIK3CA mutations associated with advanced breast cancer.

The U.S. Food and Drug Administration (FDA) has approved the drug Piqray (alpelisib) for the treatment of PIK3CA mutations associated with advanced breast cancer. This drug is marketed by Novartis and is classified as a phosphatidylinositol 3-kinase inhibitor (a type of targeted therapy for cancer cells with PI3KCA mutation).

Piqray is specifically used to treat patients who meet the following criteria:

  • Have advanced breast cancer (postmenopausal women, as well as men)
  • Their tumors carry PIK3CA mutation (confirmed by gene studies)
  • Their tumors are hormone receptor-positive (HR-positive; cancer cells that carry estrogen or progesterone receptors or both on their surface)
  • Their tumors are negative for a protein called human epidermal growth factor receptor 2 (HER2; this protein promotes the growth and spread of breast cancer cells)

Piqray is available in tablet form for oral administration and is used along with another drug called Faslodex (fulvestrant). Faslodex is a type of FDA-approved hormone therapy that blocks and damages estrogen receptors (selective estrogen receptor degrader).

The FDA approved Piqray based on the findings of the SOLAR-1 trial. This trial included 572 women and men with HER2-negative and HR-positive advanced breast cancer that grew or spread during or after they were being treated with a class of drugs called aromatase inhibitors (such as anastrozole, letrozole, or exemestane).

What are the side effects of Piqray used for the treatment of PIK3CA mutation?

Common side effects of Piqray include:

Some people may have severe skin rash along with blister formation and peeling. Such side effects require medical attention. If the patient has any history of severe skin reactions, they must inform their doctor before starting Piqray.

What is PIK3CA mutation?

PI3KCA mutation refers to a genetic defect in the synthesis of proteins p110 alpha or p110α in an enzyme called phosphatidylinositol 3-kinase (PI3K). This enzyme is involved in several essential functions in a cell.

  • An abnormal change or mutation in the PI3CKA gene can make the PI3K enzyme overactive.
  • The overactive enzyme leads to the growth of cancer cells.
  • Besides breast cancer, PI3CKA mutation has been found in various other types of cancer such as brain, lung, ovary, stomach, colon, and rectum cancer.

Breast cancer with PI3CKA mutation may not respond to conventional therapy. However, it may improve in response to treatment with medications that lower the activity of the PI3K enzyme, which are medications called PI3K inhibitors.

  • The U.S. Food and Drug Administration (FDA) has approved one such drug called Piqray (alpelisib).
    • The drug lowers PI3K activity and reduces the growth of cancer cells with PI3CKA mutation.
  • Along with Piqray, the FDA approved a companion test called the rascreen PIK3CA RGQ PCR kit.
    • This kit is marketed by QIAGEN Manchester, Ltd. and is used to detect PIK3CA mutation in blood or tumor tissue.

PI3KCA mutation is seen in about 35 percent of patients with breast cancer.

PIK3CA mutations may occur in some genetic conditions, such as:

  • fibroadipose hyperplasia
  • congenital lipomatous (fatty) overgrowth, vascular malformations, epidermal nevis, and scoliosis/skeletal/spinal anomalies syndrome
  • megalencephaly-capillary malformation syndrome
  • hemihyperplasia-multiple lipomatosis syndrome and facial infiltrating lipomatosis
The mutated PI3CKA gene in these conditions causes overgrowth of tissues leading to several problems.


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Medically Reviewed on 8/10/2022
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