Cowden syndrome

Treatment

What screenings are there for people with Cowden syndrome and a PTEN gene mutation?

In general, increased breast cancer screening may detect breast cancer at an earlier, more treatable stage. Increased breast cancer screening for women commonly involves clinical breast exams, starting at age 25, and an annual mammogram and breast MRI, starting at 30-35 years of age. Screening may be recommended earlier, depending on the family history. After age 75, breast screening should be considered on an individual basis.

There may also be options to lower the risk for breast cancer. More specifically, surgery may be an option to lower risk. But surgery is not for everyone. For women, a bilateral risk-reducing mastectomy (removal of both breasts) can greatly reduce the risk of developing breast cancer.

References
  • PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
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Is there anything that can be done to reduce the risk of uterine cancer for people with PTEN gene mutation in Cowden syndrome?

Is there anything that can be done to reduce the risk of thyroid cancer for people with a PTEN gene mutation in Cowden syndrome?

Is there anything that can be done to reduce the risk of other cancers for people with Cowden syndrome and a PTEN gene mutation?

Is there a treatment for Cowden syndrome?

Is there anything that can be done to reduce the risk of uterine cancer for people with PTEN gene mutation in Cowden syndrome?

There may also options to lower the risk for uterine cancer. More specifically, surgery may be an option to lower risk. But surgery is not for everyone. A prophylactic hysterectomy (removal of the uterus) can be considered by women who are done having children.

For women who have not undergone this risk reducing surgery, screening may be considered at your doctor's discretion. In general, screening involves a transvaginal ultrasound and random endometrial biopsies, which involves taking a small sample of the lining of the uterus. Screening should begin around 35 years of age.

References
Is there anything that can be done to reduce the risk of thyroid cancer for people with a PTEN gene mutation in Cowden syndrome?

In general, thyroid cancer screening may detect thyroid cancer at an earlier, more treatable stage. Both men and women should have an annual comprehensive physical exam, with particular attention to the thyroid exam. An annual thyroid ultrasound is also recommended from 7 years of age or from time of diagnosis.

References
  • PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
Is there anything that can be done to reduce the risk of other cancers for people with Cowden syndrome and a PTEN gene mutation?

A colonoscopy is recommended every 5 years, or more frequently if you are found to have colon polyps. Colonoscopy screening should begin at age 35, or possibly earlier, depending on the family history. A renal ultrasound is recommended every 1-2 years, starting at age 40. Some people may benefit from being managed by a dermatologist.

For children, a psychomotor assessment and brain MRI should be considered at diagnosis if the child is showing symptoms.

References
  • PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
Is there a treatment for Cowden syndrome?

There is no treatment that can cure Cowden syndrome. That being said, there are options available to reduce your risk of developing cancer. These options include:

  • Increased cancer screening
  • Risk-reducing surgery
  • Life-style changes

The National Comprehensive Cancer Network has management guidelines for PTEN gene mutation carriers. These guidelines are updated frequently, so please review the current recommendations by visiting the National Comprehensive Cancer Network website. Management recommendations vary by age.

References

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