The 6th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care

Cleveland Clinic Lerner Com-Cwru, Cleveland OH

Investigators

Abstract

Project Summary: The 6th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care will review the latest scientific and clinical advances in PTEN hamartoma tumor syndrome (PHTS), a rare genetic condition caused by germline mutations in the PTEN gene that is associated with an increased risk for certain cancers and benign growths and is one of the most common etiologies for neurodevelopmental conditions, including autism spectrum disorder. Presented by Cleveland Clinic’s Genomic Medicine Institute and Center for Personalized Genetic Healthcare and endorsed by the PTEN Hamartoma Tumor Syndrome Foundation and PTEN Italia, the symposium will offer state-of-the-art information to healthcare providers treating patients with germline PTEN mutations and provide a forum for members of the PHTS patient community to connect and learn about cutting-edge PTEN research as well as clinical surveillance and management guidelines. PHTS is a rare, complex disorder affecting multiple organs over the lifespan with differing manifestations based on age. Patients with a PTEN mutation require lifetime follow-up for neurological concerns and cancer risk surveillance as well as familial screening and evaluation. A comprehensive care model that includes both pediatric and adult specialists familiar with this condition and prepared to provide optimal care is necessary. Unfortunately, PHTS is not well known to many clinicians throughout the world. To address this knowledge gap, the program is centered on the following learning objectives: (1) describe current PTEN translational and clinical research, (2) apply research information about PHTS to diagnosis, screening, surveillance, guidelines, patient needs, clinical features and coordination of multidisciplinary team care and (3) demonstrate awareness and share education about PHTS, leading to timely diagnosis, appropriate surveillance and improved patient outcomes. Expert Cleveland Clinic and guest faculty will share research and case-based presentations highlighting the advances of genetics and genomics of PHTS and the science of PTEN. Topics include PTEN biology and therapeutics, neurodevelopmental disorders, hereditary breast cancer, gynecological cancer, updates on PTEN research and clinical trials, PTEN-related vascular anomalies, and stress and resilience in coping with PHTS. The program also will incorporate a patient experience panel, which will provide the opportunity to hear unique patient perspectives on PHTS. The symposium will be held as a live one-day event on March 27, 2023, at the InterContinental Hotel and Bank of America Conference Center in Cleveland, Ohio and will be available to virtual attendees via a livestream.