Identifying risk factors associated with self-reported lower quality of life (QoL) in individuals with PTEN hamartoma tumor syndrome.

194 Background: PTEN Hamartoma Tumor Syndrome (PHTS) is a multisystem disorder that affects various organs and systems in the body, presenting with a range of clinical manifestations. Individuals with PHTS face elevated risks of cancer and neurological symptoms, along with significant physical and psychological challenges, which underscores the need for ongoing research and the development of effective management strategies. The purpose of this study is to identify risk factors that are associated with a lower self-reported quality of life in individuals with PHTS using quantitative data from the PTEN Hamartoma Tumor Syndrome Foundation's patient registry surveys. Methods: Spearman correlation analysis of survey answers from 232 registry members in the foundation revealed negative correlations between quality of life and clinical features such as autism spectrum disorder (-.20**) and cancer diagnoses (-.21**). Results: This suggests that the more severe and penetrant cases of PHTS on the spectrum of variability face challenges that negatively impact quality of life. Additionally, 72.6% of participants reported that reducing cancer risk is a top priority. Conclusions: The findings highlight the need for healthcare providers to anticipate the need for extra care and psychosocial attention for individuals with PHTS who have an autism diagnosis, and to provide education and counseling about cancer prevention strategies to those with a heightened cancer risk. [Table: see text]