Guillaume Canaud, MD, PhD, of Necker-Enfants Malades Hospital – AP-HP, the Paris Descartes University, explains why surgical intervention to treat PIK3CA-related overgrowth syndromes (PROS) is not always the best option.
PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by mutations in the PIK3CA gene, which are usually somatic and mosaic. Specific PROS disorders include:
- Fibroadipose hyperplasia
- Hemihyperplasia multiple lipomatosis (HHML)
- Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal (CLOVES) syndrome
- Macrodactyly
- Fibroadipose infiltrating lipomatosis
- Megalencephaly-capillary malformation (MCAP)
- Dysplastic megalencephaly (DMEG)
These patients have extremely varied clinical presentations that requires individualized management strategies, ideally led by a multidisciplinary team. As Dr. Canaud explains, many overgrowths are fairly extensive and simply removing the overgrown tissue is usually not possible. As such, there is a need for a target therapy directed at the cause of the disease and to that end, Dr. Canaud was instrumental in the studies that led to the recent approval of alpelisib, a PI3K inhibitor, to manage patients with PROS.
To learn more about PROS and other rare congenital disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/