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.
Authors
- Verónica Celis (ORCID: https://orcid.org/0009-0007-9465-0424)
- Judith Llena (ORCID: https://orcid.org/0000-0002-5648-2606)
- Sandra D. Castillo (ORCID: https://orcid.org/0000-0002-7007-3155)
- Joaquím Grego‐Bessa (ORCID: https://orcid.org/0000-0002-0938-2346)
- Mariona Graupera (ORCID: https://orcid.org/0000-0003-4608-4185)
- Jairo Rodríguez (ORCID: https://orcid.org/0000-0002-6844-974X)
- Asunción Vicente (ORCID: https://orcid.org/0000-0002-6077-728X)
- Eulàlia Baselga (ORCID: https://orcid.org/0000-0003-1086-8439)
- Andrew K. Ressler (ORCID: https://orcid.org/0000-0001-5481-2774)
- Anabel Martínez-Romero (ORCID: https://orcid.org/0000-0001-5626-6674)
- Marta Ivars (ORCID: https://orcid.org/0000-0003-2500-3200)
- Mónica Roldán (ORCID: https://orcid.org/0000-0002-9530-6234)
- Jaume Mora (ORCID: https://orcid.org/0000-0002-9386-5980)
- Emanuele M. Nola (ORCID: https://orcid.org/0000-0003-2713-3383)
- Douglas A. Marchuk (ORCID: https://orcid.org/0000-0002-3110-6671)
- Ignasi Barber (ORCID: https://orcid.org/0000-0001-5938-6348)
- Carlota Rovira (ORCID: https://orcid.org/0000-0002-0174-674X)
- Raquel Arnau (ORCID: https://orcid.org/0009-0009-9812-3212)
- Héctor Salvador (ORCID: https://orcid.org/0000-0002-5984-6882)
- Miguel Bejarano (ORCID: https://orcid.org/0000-0003-2213-5945)
- Xabier Perosanz
Institutions
- 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
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