Evolving Perspectives in PIK3CA-related Overgrowth Spectrum Diagnosis & Treatment

Evolving Perspectives in Pik3ca-related Overgrowth Spectrum Diagnosis & Treatment is organized by ReachMD.,Release Date: 08/26/2022,Expiration Date: 08/25/2023,Overview:,PIK3CA-related overgrowth spectrum (PROS) refers to various clinical entities that share the same pathogenetic mechanism. These disorders are caused by somatic gain-of-function PIK3CA mutations. Diagnosis of PROS is often challenging and requires DNA sequencing of the affected tissue. PIK3CA genetic mutations vary greatly depending on the tissue being tested. PROS is not considered an inherited disease. The road to a diagnosis of a rare disease can be a long, winding process. Because of its rarity, wide spectrum of symptoms, and disease heterogeneity, patients may feel alone and as though they are the only ones with the disease. Management of PROS currently involves symptomatic treatment of its manifestations; an unmet need exists for targeted, systemic therapies. Currently, there is no cure for PROS. This educational activity will assist the interprofessional care team to better understand, apply, and interpret advances in current and emerging evidence that will help bridge the gap toward faster adoption into patient care. PIK3CA-related overgrowth spectrum (PROS) refers to various clinical entities that share the same pathogenetic mechanism. These disorders are caused by somatic gain-of-function PIK3CA mutations. Diagnosis of PROS is often challenging and requires DNA sequencing of the affected tissue. PIK3CA genetic mutations vary greatly depending on the tissue being tested. PROS is not considered an inherited disease.,Learning Objectives :,At the conclusion of this activity, participants should be better able to:,• Summarize the role of the PI3K/AKT/mTOR pathway in cell proliferation that results in rare and complex disorders, and improve awareness of the epidemiology, burden, and need for timely referral of • patients with PROS.,• Outline difficulties related to obtaining a PROS diagnosis and the psychological and quality of life challenges this often creates for patients and families.,• Compare traditional therapeutic approaches for PROS, including treatment goals, with the objectives of current clinical trials assessing the efficacy and safety of novel agents.,• Evaluate the clinical efficacy and safety data of current and past clinical trials, review best practices, and improve understanding of how to incorporate emerging treatment options that address the root causes of PROS.