Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

doi:10.1126/scitranslmed.aad9982

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Article

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Science translational medicine - 30 Mar 2016

Castillo Sandra D, Tzouanacou Elena, Zaw-Thin May, Berenjeno Inma M, Parker Victoria E R, Chivite Iñigo, Milà-Guasch Maria, Pearce Wayne, Solomon Isabelle, Angulo-Urarte Ana, Figueiredo Ana M, Dewhurst Robert E, Knox Rachel G, Clark Graeme R, Scudamore Cheryl L, Badar Adam, Kalber Tammy L, Foster Julie, Stuckey Daniel J, David Anna L, Phillips Wayne A, Lythgoe Mark F, Wilson Valerie, Semple Robert K, Sebire Neil J, Kinsler Veronica A, Graupera Mariona, Vanhaesebroeck Bart

Abstract excerpt

Venous malformations (VMs) are painful and deforming vascular lesions composed of dilated vascular channels, which are present from birth. Mutations in the TEK gene, encoding the tyrosine kinase receptor TIE2, are found in about half of sporadic (nonfamilial) VMs, and the causes of the remaining cases are unknown. Sclerotherapy, widely accepted as first-line treatment, is not fully efficient, and targeted therapy...

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PMID: 27030595
DOI: 10.1126/scitranslmed.aad9982
PMCID: PMC5973268

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