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PIK3CA Related Overgrowth Spectrum (PROS)

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in the PIK3CA gene. In PROS diseases, malformations are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue depending on the specific disease.

The clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO/FAVA), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis (FIL), and the related megalencephaly syndromes, Megalencephaly‐Capillary Malformation (MCAP or M‐CM) and Dysplastic Megalencephaly (DMEG) - (Keppler-Noreuil et al)

Additionally PIK3CA mutations have been found in Klippel-Trenaunay Syndrome as well as Lymphatic Malformation.

 

Image above from PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation - Kim Keppler - Noreuil et al.

 

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