Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

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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Detalles Bibliográficos
Autores: Pena-Couso L., Ercibengoa M., Mercadillo F., Gómez-Sánchez D., Inglada-Pérez L., Santos M., Lanillos J., Gutiérrez-Abad D., Hernández A., Carbonell P., Letón R., Robledo M., Rodríguez-Antona C., Perea J., Urioste M., Alonso M.Á., Andrés R., Arévalo S., del Mar Arias M., Balmaña J., Beristain E., Blanco I., Boronat M., Brunet J., Cózar M.V., del Campo M., Díaz A., Gabau E., Barcina M.J., González M., Guitart M., Hernán I., Hernández H.S., Hernando S., Lacambra C., Lasa A., Lastra E., Llort G., del Rosario Marín M., Marrupe D., Martínez F., Martínez V., Martorell L., Orera M., Pedrinaci S., Pérez P., Pineda M., Plasencia A.M., Cajal T.R., Robles L., Rodà D., Rodríguez N., Rosell J., Sáez R., Salvat M., Sánchez A., Santana A., Soto J.L., Toll A., Tuneu A., Vázquez C.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p15744
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15744
https://ddd.uab.cat/record/284448
Access Level:acceso abierto
Palabra clave:phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase
ubiquitin protein ligase NEDD4
PTEN protein, human
adolescent
adolescent disease
adult
aged
Article
cancer risk
child
childhood cancer
clinical feature
controlled study
Cowden syndrome
diagnostic test
disease surveillance
exon
gastrointestinal polyposis
gene
gene frequency
gene identification
gene overexpression
genetic association
genetic variability
germ line
high throughput sequencing
human
human genetics
kidney cancer
KLLN gene
macrocephaly
major clinical study
medical record review
molecular genetics
NEDD4 gene
obesity
phenotype
population genetics
population research
prediction
prevalence
PTEN gene
PTEN hamartoma tumor syndrome
questionnaire
skin defect
Spaniard
whole exome sequencing
genetics
pathology
Adolescent
Hamartoma Syndrome, Multiple
Humans
PTEN Phosphohydrolase
Whole Exome Sequencing
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. © 2022, The Author(s).

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