Improving early recognition of PTEN Hamartoma Tumour Syndrome


Patients with PTEN Hamartoma Tumour Syndrome (PHTS) are offered regular cancer surveillance, because they are at increased risk of cancer. Early recognition of PHTS patients is important as this enables timely initiation of cancer surveillance. This article of Drissen et al describes easy-to-assess and early-onset phenotypic characteristics that could be used to improve early recognition of PHTS.


In this study, we found that an enlarged head size, an enlarged thyroid gland with nodules, and multiple oral abnormalities (such as bumps on the tongue) are commonly seen in adult PHTS patients. We also saw these external features in children with PHTS, but less often than in adults with PHTS.


The presence of a combination of these characteristics could serve as an alerting signal to consider a PHTS diagnosis. In this way, recognition PHTS could be improved and cancer surveillance can be offered timely.

Drissen, M.M.C.M., et al (2021). Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome. European journal of medical genetics, 64(12), 104364.