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

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.

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Publication Details

Journal
Cancer Discovery
Published
2025-03-28
DOI
https://doi.org/10.1158/2159-8290.cd-24-0807
Citations
8
Primary Topic
Vascular Tumors and Angiosarcomas
Type
article
Field-Weighted Citation Impact
8.36
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article

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

Verónica Celis, Judith Llena, Sandra D. Castillo, Joaquím Grego‐Bessa et al.
8 citations
Cancer Discovery
Vascular Tumors and Angiosarcomas
8.36
article

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

Verónica Celis, Judith Llena, Sandra D. Castillo, Joaquím Grego‐Bessa, Mariona Graupera, Jairo Rodríguez, Asunción Vicente, Eulàlia Baselga, Andrew K. Ressler, Anabel Martínez-Romero, Marta Ivars, Mónica Roldán, Jaume Mora, Emanuele M. Nola, Douglas A. Marchuk, Ignasi Barber, Carlota Rovira, Raquel Arnau, Héctor Salvador, Miguel Bejarano, Xabier Perosanz
article en
8 citations

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.

Cancer DiscoveryVol. 15(7)
Institució Catalana de Recerca i Estudis Avançats (ES), Hospital Sant Joan de Déu Barcelona (ES), Duke University (US), Instituto de Salud Carlos III (ES), Josep Carreras Leukaemia Research Institute (ES), Qiagen (Spain) (ES), Sant Joan de Déu Research Foundation (ES), Institut de Recerca Sant Joan de Déu
Good health and well-being
Openalex Percentile: Top 2%
Vascular Tumors and Angiosarcomas
8.36
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