PTEN Genetic Test
Reviewed
Also called: PTEN gene, full gene analysis, PTEN sequencing and deletion/duplication, PTEN FISH, chromosome 10 deletion, CHR 10
This test looks for changes (variants or mutations) in the PTEN gene, a tumor suppressor gene. It is not a routine test. It may be used to guide cancer treatment if you have cancer, or to check for inherited changes linked to PTEN hamartoma tumor syndrome (PHTS) if you have symptoms or a family history.
Specimen: Blood, tumor tissue (from surgery or biopsy), bone marrow, buccal (cheek) swab, amniotic fluid, or chorionic villi
Why this test may be ordered
- To find out if a PTEN gene change is involved in your cancer and help guide treatment.
- To check for inherited PTEN gene changes if you have symptoms of PHTS or family members with PTEN changes.
- To understand and manage cancer risk if you have a family history of PTEN changes or PHTS symptoms.
Preparation and collection
For a tissue biopsy or bone marrow test, ask your provider for instructions. A blood test or cheek swab usually requires no preparation. For amniocentesis or chorionic villus sampling (CVS), you may need to drink extra fluid and not urinate before the test so your bladder is full.
Sample type depends on the reason for testing: blood draw from a vein, buccal swab, tumor biopsy (fine needle or core needle), bone marrow aspiration and biopsy, amniocentesis, or CVS.
A blood test has very little risk; you may have slight pain or bruising at the needle site. A cheek swab has no known risks. A biopsy may cause soreness, pain, or bleeding at the site. After a bone marrow test, you may feel stiff or sore for a few days; serious risks are rare but can include swelling, bleeding, or fever. Amniocentesis and CVS are safe but have a slight risk of causing miscarriage.
Understanding results
Your healthcare provider will explain what your results mean for your treatment plan and future health. The following patterns are based on the information provided by MedlinePlus.
- Acquired PTEN gene change detected (in cancer cells): A change in the PTEN gene was found in your cancer cells. This change was not inherited and developed after birth. It may affect how your cancer responds to treatment and how it behaves over time. Limitation: This result does not mean you have an inherited condition. The significance depends on the type of cancer and other factors. Next step: Your provider will discuss how this result may guide your treatment plan and future monitoring.
- Inherited PTEN gene change detected: You have an inherited change in the PTEN gene, which means you have PTEN hamartoma tumor syndrome (PHTS). This does not mean you have cancer, but your risk for certain cancers (breast, thyroid, kidney, uterine, colorectal) may be higher than most people. Limitation: This result does not diagnose cancer. It indicates a genetic predisposition that requires ongoing management. Next step: Your provider may recommend yearly exams, frequent cancer screening tests, lifestyle changes, and possibly risk-reducing surgery or medication. For children, yearly exams, skin checks, and thyroid ultrasound starting at age 7 may be recommended. Genetic counseling is advised.
- No PTEN gene change detected: No changes in the PTEN gene were found in the sample tested. This may mean that a PTEN gene change is not contributing to your condition or cancer risk. Limitation: This result does not rule out other genetic or non-genetic causes of your symptoms or cancer. It also does not eliminate the possibility of acquired changes in other genes. Next step: Your provider will interpret this result in the context of your personal and family history and may recommend other tests or follow-up as appropriate.
- This test is not a routine screening test and is only used in specific clinical situations.
- Acquired PTEN changes are common in many cancers and do not indicate an inherited syndrome.
- Inherited PTEN changes are uncommon; a negative result does not rule out other genetic conditions.
- Test results should be interpreted by a healthcare professional, ideally with genetic counseling.
- For prenatal testing (amniocentesis or CVS), there is a slight risk of miscarriage.
What to do next
Discuss your results with your healthcare provider or a genetic counselor to understand what they mean for your health and your family.
- What type of PTEN gene change was found (acquired or inherited)?
- How does this result affect my treatment plan or cancer risk management?
- Should I or my family members consider genetic counseling?
- What follow-up tests or screenings are recommended based on my results?