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, a 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.