2026-04-17T13:50:27Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4713932025-10-17T15:32:26Zcom_2072_98col_2072_378192

00925njm 22002777a 4500 dc Pena-Couso, Laura author Ercibengoa Arana, Maria author Mercadillo, Fátima author Gómez-Sánchez, David author Inglada-Pérez, Lucia author Santos, Maria Lucia S.F. author Lanillos, Javier author Gutiérrez-Abad, David author Hernández, Almudena author Carbonell, Pablo author Letón, Rocío author Robledo, Mercedes author Rodriguez-Antona, Cristina author Perea García, José author Urioste, Miguel author Alonso, Miguel Ángel author Andrés Conejero, Raquel author Arévalo, Sara author Arias, Maria del Mar author Balmaña Gelpí, Judith author Beristain, Elena author Blanco Guillermo, Ignacio author Boronat, Mauro author Brunet, Joan author Cózar-León, Victoria author del Campo Casanelles, Miguel author Díaz, Arantza author Gabau, Elisabeth author Barcina, María Jesús author González, Margarita author Guitart, Miriam author Hernán, Imma author Hernández, Héctor Salvador author Hernando-Polo, Susana author Lacambra, Carmen author Lasa, Adriana author Lastra, Enrique author Llort, Gemma author del Rosario Marín, Maria author Marrupe, David author Martínez, Francisco author Martínez, Victor author Martorell, Loreto author Orera, Maria author Pedrinaci, Susana author Pérez, Pedro author Pineda, Marta author Plasencia, Ana Maria author Ramon y Cajal, Teresa author Robles, Luis author Rodà, Diana author Rodríguez, Nuria author Rosell Andreo, Jordi author Sáez, Raquel author Salvat, Monica author Sánchez, Antonio author Santana, Alfredo author Soto, Jose Luis author Toll, Agustin author Tuneu, Anna author Vázquez, Carlos author 2022 Altres ajuts: European Regional Development Fund; Federación Española de Enfermedades Raras (FEDER); European Social Fund (ESF). Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. Results: We reviewed the clinical data collected through a specific questionnaire in a series of 145 Spanish patients with a phenotypic features compatible with PHTS and performed molecular characterization through several approaches including next generation sequencing and whole exome sequencing (WES). Macrocephaly, mucocutaneous lesions, gastrointestinal polyposis and obesity are prevalent phenotypic features in PHTS and help predict the presence of a PTEN germline variant in our population. We also find that PHTS patients are at risk to develop cancer in childhood or adolescence. Furthermore, we observe a high frequency of variants in exon 1 of PTEN, which are associated with renal cancer and overexpression of KLLN and PTEN. Moreover, WES revealed variants in genes like NEDD4 that merit further research. Conclusions: This study expands previously reported findings in other PHTS population studies and makes new contributions regarding clinical and molecular aspects of PHTS, which are useful for translation to the clinic and for new research lines. PTEN hamartoma tumor syndrome Cowden syndrome PTEN gene NGS Exome Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients