PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients
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Jesús Martín-Valbuena1, Nerea Gestoso-Uzal2,3, María Justel-Rodríguez1
1Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain.
Insights
PTEN hamartoma tumor syndrome (PHTS) presents diverse symptoms, including macrocephaly and neurological issues. Early genetic testing for PHTS in children with significant macrocephaly is recommended for personalized care.
Area of Science:
- Pediatric genetics
- Rare disease characterization
- Clinical genetics
Background:
- PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder.
- Characterizing PHTS in pediatric populations is crucial for understanding its clinical spectrum.
- Early identification aids in managing associated health risks.
Purpose of the Study:
- To fully characterize a cohort of 11 pediatric patients with PTEN hamartoma tumor syndrome (PHTS).
- To document the clinical, imaging, demographic, and genetic features of PHTS in children.
- To identify novel genetic alterations associated with PHTS.
Main Methods:
- Retrospective collection of clinical, imaging, demographic, and genetic data from 11 pediatric PHTS patients.
- Data gathered from hospital medical histories between February 2019 and April 2023.
- Genetic analysis focused on PTEN gene mutations.
Main Results:
- Macrocephaly was observed in all patients; frontal bossing was the most frequent dysmorphism.
- Neurological issues were common; dental malformations were noted in 27% of patients.
- PTEN gene alterations, particularly in the tensin-type C2 domain, were identified in 72% of cases, with four novel mutations discovered.
Conclusions:
- PTEN mutations manifest with diverse clinical signs, sometimes atypical for PHTS.
- Genetic studies are recommended for early diagnosis in children with significant macrocephaly.
- Early diagnosis facilitates personalized monitoring and management of PHTS complications.
Objective:
The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).
Patients And Methods:
Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history.
Results:
Regarding clinical manifestations, macrocephaly was the leading sign, present in all patients. Frontal bossing was the most frequent dysmorphism. Neurological issues were present in most patients. Dental malformations were described for the first time, being present in 27% of the patients. Brain MRI showed anomalies in 57% of the patients. No tumoral lesions were present at the time of the study. Regarding genetics, 72% of the alterations were in the tensin-type C2 domain of PTEN protein. We identified four PTEN genetic alterations for the first time.
Conclusions:
PTEN mutations appear with a wide variety of clinical signs and symptoms, sometimes associated with phenotypes which do not fit classical clinical diagnostic criteria for PHTS. We recommend carrying out a genetic study to establish an early diagnosis in children with significant macrocephaly. This facilitates personalized monitoring and enables anticipation of potential PHTS-related complications.
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