Somatic Uniparental Disomy of <i>PTEN</i> in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

20258 citationsJournal Articlegreen Open Access

Authors

Sandra D. Castillo · Josep Carreras Leukaemia Research Institute

Xabier Perosanz · Josep Carreras Leukaemia Research Institute

Andrew K. Ressler · Duke University

Marta Ivars · Hospital Sant Joan de Déu Barcelona

Jairo Rodríguez · Qiagen (Spain)

Carlota Rovira · Hospital Sant Joan de Déu Barcelona

Emanuele M. Nola

Abstract

Somatic loss of PTEN in ECs causes vascular malformations in patients with the tumor risk syndrome PHTS. These lesions respond to PI3K signaling inhibition. See related commentary by Del Prior and Toker, p. 1306.

Topics & Keywords

Vascular Tumors and Angiosarcomas PI3K/AKT/mTOR signaling in cancer Vascular Malformations and Hemangiomas

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Cancer Discovery

Volume 15, Issue 7, pp. 1350-1362

DOI: 10.1158/2159-8290.cd-24-0807

Field-Weighted Citation Impact: 8.37