Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome

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:...

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Autores: Pena-Couso, Laura|||0000-0002-8665-1618, Ercibengoa Arana, Maria|||0000-0001-9152-6590, Mercadillo, Fátima, Gómez-Sánchez, David, Inglada-Pérez, Lucia|||0000-0001-9814-4368, Santos, Maria Lucia S.F., Lanillos, Javier|||0000-0002-5054-6007, Gutiérrez-Abad, David, Hernández, Almudena, Carbonell, Pablo, Letón, Rocío, Robledo, Mercedes|||0000-0001-6256-5902, Rodríguez Antona, Cristina|||0000-0001-8750-7338, Perea García, José|||0000-0001-5522-8844, Urioste, Miguel|||0000-0001-7583-7305, Alonso, Miguel Ángel, Andrés Conejero, Raquel, Arévalo, Sara, Arias, Maria del Mar, Balmaña Gelpí, Judith|||0000-0002-0762-6415, Beristain, Elena, Blanco Guillermo, Ignacio|||0000-0002-7414-7481, Boronat, Mauro, Brunet, Joan|||0000-0003-1945-3512, Cózar-León, Victoria|||0000-0003-2089-4059, del Campo Casanelles, Miguel|||0000-0001-7234-6519, Díaz, Arantza, Gabau, Elisabeth|||0000-0001-8120-7393, Barcina, María Jesús, González, Margarita, Guitart, Míriam|||0000-0001-5438-8782, Hernán, Imma, Hernández, Héctor Salvador, Hernando-Polo, Susana, Lacambra, Carmen, Lasa, Adriana|||0000-0001-9957-9646, Lastra, Enrique, Llort, Gemma|||0000-0001-9987-7862, del Rosario Marín, Maria, Marrupe, David, Martínez, Francisco, Martínez, Victor, Martorell, Loreto|||0000-0003-0898-7332, Orera, Maria|||0000-0003-0079-2055, Pedrinaci, Susana, Pérez, Pedro, Pineda, Marta|||0000-0002-5403-5845, Plasencia, Ana Maria, Ramon y Cajal, Teresa|||0000-0003-3490-3585, Robles, Luis, Rodà, Diana, Rodríguez, Nuria, Rosell Andreo, Jordi, Sáez, Raquel, Salvat, Monica, Sánchez, Antonio, Santana, Alfredo, Soto, José Luis, Toll, Agustin, Tuneu, Anna, Vázquez, Carlos
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:284448
Acceso en línea:https://ddd.uab.cat/record/284448
https://dx.doi.org/urn:doi:10.1186/s13023-021-02079-7
Access Level:acceso abierto
Palabra clave:PTEN hamartoma tumor syndrome
Cowden syndrome
PTEN gene
NGS
Exome
Descripción
Sumario: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.

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