A review on age-related cancer risks in PTEN hamartoma tumor syndrome


This review summarizes age-, sex-, and type-specific malignant cancer risks for patients with the PTEN hamartoma tumor syndrome (PHTS), which is urgently needed for clinical management.1


A PubMed literature search resulted in nine cohort studies comprising four independent cohorts, including mainly index cases and prevalent cases.


Given the current available cancer risk estimates, female PHTS patients have an increased risk and earlier onset of female breast, endometrial and thyroid cancer compared with the general population, while male PHTS patients have an increased risk of thyroid cancer. For other cancers of the PHTS tumor spectrum risks remain to be defined more accurately.


Although current risk estimates provide guidance for clinical care, discrepancies between studies, sample sizes, retrospective designs, strongly ascertained cases, and lack of pediatric research emphasizes that data should be interpreted with great caution.


Therefore, more accurate and more personalized age-, sex- and cancer-specific risk estimates are needed to enable counseling of all PHTS patients irrespective of ascertainment, and improvement of cancer surveillance guidelines.


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.