PIK3CA Mutations in PROS
PIK3CA mutations are at the root of PIK3CA-Related Overgrowth Spectrum (PROS) disorders
PROS disorders are understood to share a single cause: somatic mutations of the PIK3CA gene.1
The PIK3CA gene codes for the α isoform of PI3K, which is known to be involved in cell development and growth.1-3
When mutated, the PIK3CA gene can drive unchecked cellular growth and proliferation.1-3
In the case of PROS, the mutation occurs during embryonic development, resulting in a mosaic overgrowth pattern (ie, patches of affected and unaffected areas).1
Mechanism of Disease video
Discover how PIK3CA mutations are at the root of PROS disorders.
References:
- Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
- Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014;164A(7):1713-1733.
- Lindhurst MJ, Parker VER, Payne F, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012;44(8):928-933.
