Journal
ORPHANET JOURNAL OF RARE DISEASES
Volume 17, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s13023-021-02079-7
Keywords
PTEN hamartoma tumor syndrome; Cowden syndrome; PTEN gene; NGS; Exome
Funding
- Spanish Ministry of Economy and Competitiveness (MINECO)
- European Regional Development Fund [PI14/00459]
- Federacion Espanola de Enfermedades Raras (FEDER)
- MINECO [BES-2015-071383]
- European Social Fund (ESF)
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This study reviewed the clinical data of 145 Spanish patients with PTEN hamartoma tumor syndrome (PHTS) and identified new genes potentially associated with the disease through molecular characterization. The findings of this study have important implications for translation to the clinic and for new research lines.
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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