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Considerations for total thyroidectomy in an adolescent with PTEN mutation
Mustafa Tosur1, Mary L Brandt2, Ioanna D Athanassaki3
1Department of Pediatrics, Section of Diabetes and Endocrinology, Texas Children's Hospital, Baylor College of Medicine, 6701 Fannin Street, Ste 10.20, Houston, TX 77030, USA.
Therapeutic Advances in Endocrinology and Metabolism
|September 6, 2018
Summary
Individuals with PTEN Hamartoma Tumor Syndrome (PHTS) face a high risk of thyroid cancer. This case highlights total thyroidectomy as a potential prophylactic measure for managing this risk in PHTS patients.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- PTEN Hamartoma Tumor Syndrome (PHTS) significantly increases the risk of well-differentiated thyroid cancer.
- Guidelines for prophylactic thyroidectomy in PHTS patients are not well-defined.
Observation:
- A 14-year-old female with PHTS presented with neck swelling, multinodular goiter, and autoimmune thyroiditis.
- She also had asymptomatic tracheal narrowing, which progressed to positional dyspnea during sleep.
- Genetic testing confirmed a pathogenic variant in the PTEN gene.
Findings:
- Total thyroidectomy was performed to address the patient's symptoms and incidentally eliminated her thyroid cancer risk.
- The case demonstrates the potential benefit of thyroidectomy in managing PHTS-associated thyroid abnormalities.
Implications:
- This case suggests that total thyroidectomy could be a valuable prophylactic strategy for select PHTS patients.
- Further research is needed to define specific clinical scenarios for considering prophylactic thyroidectomy in PHTS.
- Early intervention may mitigate the risk of thyroid cancer in individuals with PHTS.
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