Improving early recognition of PTEN Hamartoma Tumour Syndrome


Patients with PTEN Hamartoma Tumour Syndrome (PHTS) are offered regular cancer surveillance, due to an increased cancer risk. Early recognition of PHTS is important as this enables timely initiation of cancer surveillance. This article aimed to identify easy-to-assess and early-onset phenotypic characteristics that could serve as red flags (i.e. alerting signals) to improve early recognition of PHTS.


These phenotypic characteristics included macrocephaly, multinodular goitre (MNG), and oral features (such as oral papillomas), which were examined during yearly surveillance visits at our expert centre.


Macrocephaly, MNG, and multiple oral features were highly prevalent in adult PHTS patients. These characteristics were also present in paediatric patients, but less common compared to adult patients. Scoring two out of three phenotypic characteristics yielded a high sensitivity in adult patients.


The presence of the combination macrocephaly, MNG, or multiple oral features could serve as a red flag for general practitioners, medical specialists, and dentists to consider further assessment of the diagnosis PHTS in adults. With these red flags early recognition of PHTS might 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.