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

项目概要：第六届国际PTEN年会：以患者为中心 研究临床护理将审查最新的科学和临床进展的PTEN 错构瘤肿瘤综合征（PHTS）是一种罕见的遗传性疾病，由生殖细胞突变引起， 与某些癌症和良性肿瘤风险增加有关的PTEN基因 也是神经发育疾病包括自闭症最常见的病因之一 谱系障碍由克利夫兰诊所基因组医学研究所和中心提出， 个性化的遗传保健和赞同的PTEN错构瘤肿瘤综合征 该研讨会将与基金会和PTEN Italia合作，为医疗保健提供最先进的信息 提供者治疗生殖系PTEN突变患者，并为成员提供论坛， PHTS患者社区连接和了解尖端的PTEN研究，以及 临床监测和管理指南。PHTS是一种罕见的复杂疾病， 多个器官的寿命与不同的表现，根据年龄。患者 PTEN突变需要终生随访以进行神经学关注和癌症风险监测 以及家族筛查和评估。全面的护理模式，包括 熟悉这种情况并准备提供最佳护理的儿科和成人专家是 必要不幸的是，PHTS并不为世界各地的许多临床医生所熟知。到 为了解决这一知识差距，该计划以以下学习目标为中心：（1） 描述目前的PTEN翻译和临床研究，（2）应用研究信息， PHTS与诊断、筛查、监测、指南、患者需求、临床特征和 协调多学科团队护理和（3）展示意识和分享教育 关于PHTS，导致及时诊断，适当的监测和改善患者 结果。专家克利夫兰诊所和客座教师将分享研究和基于案例的 介绍了PHTS的遗传学和基因组学的进展， PTEN。主题包括PTEN生物学和治疗学，神经发育障碍， 遗传性乳腺癌，妇科癌症，PTEN研究和临床试验的更新， PTEN相关的血管异常，以及应对PHTS的压力和恢复力。程序 还将包括一个病人经验小组，这将提供机会，听取 患者对PHTS的独特看法。研讨会将作为为期一天的现场活动， 2023年3月27日，在洲际酒店和美国银行会议中心， 克利夫兰，俄亥俄州，并将提供给虚拟与会者通过直播。

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.