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Cowden syndrome is a risk factor for multiple neoplasm: a case report
Sofia Miguelote1, Roberto Silva2,3, J L Fougo2,4
1Faculty of Medicine, University of Porto, Porto, Portugal. sofiamiguelote@hotmail.com.
World Journal of Surgical Oncology
|August 19, 2020
Summary
Cowden's syndrome, a genetic disorder affecting the PTEN gene, presents with mucocutaneous lesions and increases cancer risk. Early diagnosis and monitoring are crucial for managing this condition and preventing premature deaths.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- Cowden's syndrome is an autosomal dominant disorder linked to the PTEN tumor suppressor gene.
- It is characterized by mucocutaneous lesions, macrocephaly, cognitive impairment, and an increased risk of various neoplasms.
- Associated findings include arteriovenous malformations, endocrine, skeletal, and cardiopulmonary abnormalities.
Observation:
- A 28-year-old woman with palmar pits, macrocephaly, and cognitive impairment was diagnosed with Cowden's syndrome.
- She had a history of papillary thyroid carcinoma at age 22 and metastatic breast sarcoma at age 27.
- Genetic evaluation confirmed a PTEN gene alteration.
Findings:
- The patient presented with a constellation of symptoms indicative of Cowden's syndrome.
- The genetic analysis confirmed the diagnosis by identifying a PTEN gene alteration.
- The patient succumbed to metastatic neoplastic pathology at age 29.
Implications:
- This case highlights the importance of recognizing the clinical signs of Cowden's syndrome for early diagnosis.
- Prompt identification and close clinical supervision are essential for managing cancer risks associated with this genetic disorder.
- Early diagnosis of genetic diseases with cancer predisposition can improve patient outcomes and quality of life.
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