RT Journal Article
T1 Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
A1 Pena-Couso, Laura
A1 Ercibengoa, María
A1 Mercadillo, Fátima
A1 Gómez-Sánchez, David
A1 Inglada-Pérez, Lucía
A1 Santos, María
A1 Lanillos, Javier
A1 Gutiérrez-Abad, David
A1 Hernández, Almudena
A1 Carbonell, Pablo
A1 Letón, Rocío
A1 Robledo, Mercedes
A1 Rodríguez-Antona, Cristina
A1 Perea, José
A1 Urioste, Miguel
A1 PHTS Working Group, 
K1 Cowden syndrome
K1 Exome
K1 NGS
K1 PTEN gene
K1 PTEN hamartoma tumor syndrome
AB 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. 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. 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.
YR 2022
FD 2022-02-28
LK http://hdl.handle.net/10668/20337
UL http://hdl.handle.net/10668/20337
LA en
DS RISalud
RD Jul 29, 2025