Name of the Procedure:

PIK3CA (phosphatidylinositol-4,5-biphosphate 3-kinase, catalytic subunit alpha) Gene Analysis, Targeted Sequence Analysis (e.g., exons 7, 9, 20)

Summary

PIK3CA gene analysis is a genetic test that examines specific regions of the PIK3CA gene to detect mutations. This test is commonly used for individuals with colorectal and breast cancer to guide treatment decisions and prognosis.

Purpose

The PIK3CA gene analysis helps identify mutations within the PIK3CA gene that may drive cancer growth. The test aims to:

• Personalize cancer treatment plans based on mutation status.
• Predict patient response to targeted therapies.
• Aid in prognosis and disease management.

Indications

• Patients diagnosed with colorectal or breast cancer.
• Individuals with recurrent or metastatic cancer.
• Patients who are candidates for specific targeted therapies.

Preparation

• No specific fasting or dietary restrictions.
• Patients may need to provide a blood sample or tumor biopsy.
• Pre-test consultations to review medical history and any medications.

Procedure Description

1. A sample of blood or tumor tissue is obtained from the patient.
2. The sample is sent to a specialized laboratory.
3. DNA is extracted from the sample.
4. Polymerase Chain Reaction (PCR) is used to amplify specific regions of the PIK3CA gene (e.g., exons 7, 9, 20).
5. Sequencing technology analyzes the amplified DNA to detect mutations.
6. Results are interpreted by genetic specialists.

Duration

Collection of the sample takes a few minutes. Laboratory analysis may take several days to a week.

Setting

• Sample collection can be done in a hospital, outpatient clinic, or laboratory.
• The actual genetic analysis is conducted in a specialized genetics or pathology laboratory.

Personnel

• Oncologists
• Genetic counselors
• Laboratory technicians
• Pathologists

Risks and Complications

• Minimal risks associated with blood draw or biopsy, such as slight pain or bruising at the collection site.
• Rare risk of infection at the biopsy site.

Benefits

• Tailored cancer treatment plans leading to potentially better outcomes.
• Improved understanding of disease prognosis.
• Insight into the most effective medications and therapies.

Recovery

• No specific recovery time needed for the genetic test itself.
• Follow-up appointments may be scheduled to discuss results and treatment options.

Alternatives

• Comprehensive genetic panel testing for other cancer-related genes.
• Imaging studies (CT, MRI) for tumor assessment.
• Other molecular tests like KRAS or NRAS mutation analysis.

Patient Experience

• Blood draw or tissue biopsy is quick with minimal discomfort.
• Waiting period for results may cause anxiety, but genetic counseling is available for support.
• No significant post-procedure pain or recovery required.