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PTEN hamartoma tumour syndrome: early tumour development in children
Patroula Smpokou1, Victor L Fox2, Wen-Hann Tan3
1Division of Genetics & Metabolism, Children's National Health System, Washington, DC, USA George Washington University, School of Medicine and Health Sciences, Washington, DC, USA.
Insights
Children with PTEN hamartoma tumour syndrome (PHTS) can develop tumors at a young age. Early diagnosis of clinical findings and tumors is crucial for timely intervention and management in pediatric PHTS patients.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Rare Diseases
Background:
- PTEN hamartoma tumour syndrome (PHTS) is a genetic disorder associated with an increased risk of various tumors.
- Early identification of clinical manifestations and tumor development in children with PHTS is essential for proactive management.
Purpose of the Study:
- To determine the earliest age of diagnosis for common clinical findings and tumors in pediatric patients diagnosed with PHTS.
- To highlight characteristic early-onset features of PHTS in children.
Main Methods:
- Retrospective review of medical records of 34 children diagnosed with PHTS (under 21 years old) at Boston Children's Hospital (1996-2011).
- Data collected included growth parameters, clinical manifestations, tumor presence, and age at diagnosis.
- Genetic testing confirmed PHTS diagnosis.
Main Results:
- Macrocephaly and developmental/intellectual disability were common findings.
- Pigmented penile macules were observed in all examined males.
- Thyroid nodules diagnosed as early as 5 years, and thyroid carcinoma as early as 7 years.
- Other tumors included renal cell carcinoma (11 years), ovarian granulosa cell tumor, and colonic ganglioneuroma (16 years).
Conclusions:
- PHTS presents with characteristic clinical findings and tumors in childhood.
- Tumorigenesis can occur at a young age in children with PHTS, underscoring the need for early and vigilant surveillance, particularly for thyroid abnormalities.
Objective:
The aim of this study was to report the earliest age of diagnosis of common clinical findings in children with PTEN hamartoma tumour syndrome (PHTS).
Design:
Medical records of children with PHTS were reviewed; data included growth measurements, presence or absence of specific clinical manifestations and tumours, and documented ages of diagnosis.
Setting:
Children with PHTS evaluated at Boston Children's Hospital from 1996 to 2011.
Patients:
The cohort included 34 children diagnosed with PHTS via genetic testing, under the age of 21 years. Of these, 23 were male and 11 female. The mean age at their last documented clinical evaluation was 13.6 years. The mean follow-up time was 7.5 years.
Results:
Macrocephaly and developmental/intellectual disability were consistent findings. Pigmented penile macules were noted in all males examined for this finding. Thyroid nodules, found in half the children screened with ultrasound, were diagnosed as early as at 5 years of age. Thyroid carcinoma, identified in 12% of the children in this cohort, was diagnosed as early as at 7 years of age. Other tumours included renal cell carcinoma diagnosed at 11 years of age and granulosa cell tumour of the ovary and colonic ganglioneuroma, each diagnosed at 16 years of age.
Conclusions:
Specific clinical findings and tumours are characteristic in children with PHTS. Tumour development occurs in young children with this condition, which necessitates early surveillance, especially of the thyroid.
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