Catch them if you are aware: PTEN postzygotic mosaicism

Early recognition of patients with PTEN Hamartoma Tumour Syndrome (PHTS) is very important. PHTS patients have an increased risk of developing cancer and are offered regular cancer surveillance. Early PHTS diagnosis enables timely initiation of these surveillance programs.

This article by Hendricks et al. describes two young patients with a PHTS-suggestive phenotype, which results from PTEN mosaic variants and provides an additional overview of the literature.

Recognition of PTEN mosaicism is important to enable PHTS diagnosis, which facilitates timely inclusion in cancer surveillance programs to improve their prognosis and life expectancy.

Reference

Hendricks, L.A.J. et al. (2022), Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature overview. Eur J Med Genet. 2022;65(7):104533