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PIK3CA-related overgrowth spectrum disorder

Saturday 16 March 2019

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

See also : PIK3CA

Definition : PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are also found in benign overgrowth syndromes, collectively known as PIK3CA-related overgrowth spectrum (PROS).

As in cancer, PIK3CA mutations in PROS arise postzygotically, but unlike in cancer, these mutations arise during embryonic development, with their timing and location critically influencing the resulting disease phenotype.

The phosphoinositide 3-kinase (PI3K) pathway inhibitors undergoing trials in cancer can provide a therapy for PROS.


- segmental epidermal nevus
- mucosal neuromas / mucosal neuroma
- generalized lymphatic anomaly (30591517)

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.

Madsen RR, Vanhaesebroeck B, Semple RK.

Trends Mol Med. 2018 Oct;24(10):856-870. doi : 10.1016/j.molmed.2018.08.003. Epub 2018 Sep 6. Review

PMID: 30197175 Free PMC Article