A review on age-related cancer risks for patients with the PTEN hamartoma tumor syndrome

 

For counselling and treatment of patients with the PTEN hamartoma tumor syndrome (PHTS), it is important to know what the cancer risks are in these patients. This review of Hendricks et al summarizes the current available information about cancer risks for PHTS patients.1

 

Based on current available information, females have predominantly a strong increased risk and earlier age at onset for breast, endometrial, and thyroid cancer. Males have predominantly an increased risk and earlier age of onset for thyroid cancer. This means that the risk for developing these types of cancer is higher for PHTS patients, compared to the general population. Also, these cancer types are likely to develop on a younger age in PHTS patients compared to the general population. For other types of cancer that can develop in PHTS patients, such as colorectal cancer, kidney cancer and melanoma, the risks are more uncertain.

 

For the counseling and treatment of PHTS patients, it is important to have better and more personal cancer risk estimates. To realize this, we need to perform a large study on the natural disease history of both pediatric and adult patients, such as the INSPECT study.

References

1. Hendricks, L.A.J., et al., A review on age-related cancer risks in PTEN hamartoma tumor syndrome. Clin Genet, 2021. 99(2): p. 219-225.

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