What Is the Treatment for PIK3CA Mutation?

Reviewed on 8/10/2022
PIK3CA gene mutations can cause many kinds of cancer, including metastatic breast cancer. PIK3CA mutation is treated with the drug alpelisib (Piqray), which is specifically used for postmenopausal women and men with advanced breast cancer.
PIK3CA gene mutations can cause many kinds of cancer, including metastatic breast cancer. PIK3CA mutation is treated with the drug alpelisib (Piqray), which is specifically used for postmenopausal women and men with advanced breast cancer. 

Breast cancer occurs when cells in the breast become abnormal and grow out of control. 

The PIK3CA gene provides instructions to the body to make a protein that helps control the signaling of other proteins. This protein helps many processes occur at the correct times including cell growth and division, cell movement, and cell survival. 

PIK3CA gene mutations can contribute to the growth of many kinds of cancer, including metastatic breast cancer. PIK3CA mutations are present in about 30 to 40 percent of breast cancers.

PIK3CA mutation is treated with the drug alpelisib (Piqray), a targeted therapy called a PI3K inhibitor. Alpelisib (Piqray) is specifically for postmenopausal women and men with advanced breast cancer whose tumors have the PIK3CA mutation and are hormone receptor (HR) positive and HER2 negative. 

Alpelisib (Piqray) is meant to be used along with fulvestrant (Faslodex), a hormone therapy already approved by the FDA.

In general, treatment for breast cancer usually involves a combination of surgery, radiation, chemotherapy, and other treatments. 

  • Surgery 
  • Radiation therapy 
  • Chemotherapy
  • Hormone therapy
  • Targeted therapy
  • Immunotherapy 

What Are Symptoms of Breast Cancer?

Symptoms of breast cancer include:

  • Breast lump
    • Not all lumps in the breast are cancerous; more than 80% are benign
    • See a doctor if you notice breast changes or lumps
  • Pain in any area of the breast
  • Changes in the size or shape of the breast
  • Skin changes on the breast: redness, scaliness, flaky skin, or thickening of the nipple or breast skin
  • Swelling or thickening of the breast
  • Irritation or dimpling of the breast skin
  • Nipple turning inward
  • Nipple pain
  • Nipple discharge that is not breast milk, including blood
  • Lump in the underarm area (armpit)

How Is Breast Cancer Diagnosed?

Sometimes, a woman may first discover a lump or may notice changes in the breast. In addition to a physical examination to look for breast changes, tests used to confirm a breast cancer diagnosis include: 

  • Mammogram (a special type of X-ray)
    • 3D tomosynthesis is a special new type of digital mammogram
  • Breast ultrasound 
  • Breast magnetic resonance imaging (MRI)
    • Not usually used to screen for breast cancer but may be used in some situations
  • Biopsy, in which samples of tissue from the breast are removed and examined 

PIK3CA mutations are found in up to 40% of breast cancers. To determine if a PIK3CA mutation is present, a tissue sample (a biopsy, taken from the tumor) or a plasma sample (taken from the blood) is sent for testing. Sometimes, blood is tested first, and if there is no PIK3CA mutation found in the plasma sample, a tissue sample from the tumor may be tested. 


 
Genetic PIK3CA

Is PIK3CA Related Overgrowth Spectrum Cancer?

What Causes PIK3CA-Related Overgrowth Spectrum?

PIK3CA-related overgrowth spectrum (PROS) is caused by mutations in the PIK3CA gene. 

PIK3CA-related overgrowth spectrum disorders include:

  • Fibroadipose hyperplasia (also called fibroadipose overgrowth)
  • CLOVES syndrome
  • Megalencephaly-capillary malformation syndrome (MCAP syndrome)
  • Hemihyperplasia-multiple lipomatosis syndrome (HHML syndrome)
  • Hemimegalencephaly
  • Facial infiltrating lipomatosis (a congenital disorder that causes overgrowth of one side of the face)
Reviewed on 8/10/2022
References
Image Source: iStock Images

https://www.uptodate.com/contents/breast-cancer-the-basics

https://www.uptodate.com/contents/breast-cancer-guide-to-diagnosis-and-treatment-beyond-the-basics

http://www.cancer.org/cancer/breastcancer/overviewguide/breast-cancer-overview-what-causes

https://www.breastcancer.org/

https://blog.dana-farber.org/insight/2019/12/what-does-a-breast-cancer-lump-feel-like/

https://seer.cancer.gov/statfacts/html/breast.html

https://www.us.piqray.com/metastatic-breast-cancer/about-mbc/metastatic-breast-cancer-diagnosis/