PIK3CA-Related Overgrowth Spectrum (PROS) is an umbrella term that categorizes conditions stemming from or associated with a PIK3CA mutation. Also known as “overgrowth disorder,” PIK3CA is a gene that produces a protein important in the proper growth and division of a cell. Therefore, a patient with a PIK3CA mutation will have cells that unconditionally divide. PIK3CA is also important in movement of cells, production of new proteins, and cell survival (Medlineplus.org, 2021). These conditions include vascular malformations like KTS, FAVA, and CLOVES syndrome (full list below).
This list was taken from understandingpros.com, which has more information on each condition:
Because PROS includes many different conditions, the symptoms leading to a PROS diagnosis are extremely diverse. They can include enlarged fingers or toes, scoliosis, abnormal growth in one part of the body (i.e. muscle, fatty tissue, organs, spine, or skeleton), vascular malformation, lymphatic malformation, or enlarged head. PROS can be diagnosed at birth or during early childhood, and overgrowth is often sizable. Beyond physical complications, PROS can also affect the psychosocial health of a patient, and lead to increased stress, anxiety, and depression.
Cause and Origin
PROS disorders stem from PIK3CA mutations, which only affect certain cells in the body. This means that overgrowth may be sporadically dispersed on the body (known as mosaicism). Though the research on the prevalence of PROS is low, clinicians estimate 14 people per one million have a PROS related condition (Novartis Pharmaceuticals Corp, 2020).
While PROS cannot be cured, there are a number of interventions that can reduce symptoms. Current treatments include surgery (to remove the areas of overgrowth), interventional radiology (i.e. sclerotherapy), compression and elevation (applying pressure to reduce swelling), and monitoring.
Additional Resources / Sources
Interview – PIK3ca gene mutation in vascular anomalies and overgrowth syndromes: https://www.youtube.com/watch?v=9B6_LA8P_RQ
Animation about PROS – https://www.youtube.com/watch?v=T0lOTucJNXk