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[Carney triad; report of a case]
Shoichi Mori1, H Yoshioka, T Fukui
1Department of Thoracic Surgery, Nagoya University School of Medicine, Nagoya, Japan.
Kyobu Geka. the Japanese Journal of Thoracic Surgery
|July 12, 2005
Summary
Carney triad, a rare condition involving gastrointestinal stromal tumors (GIST), pulmonary chondromas, and paragangliomas, requires long-term monitoring. Early diagnosis and intensive follow-up are crucial due to the potentially lethal nature of these tumors.
Area of Science:
- Oncology
- Rare Diseases
- Genetics
Background:
- Carney triad is an extremely rare genetic disorder characterized by the simultaneous occurrence of gastrointestinal stromal tumors (GIST), pulmonary chondromas, and paragangliomas.
- This condition typically manifests in young individuals, presenting complex diagnostic and management challenges.
Observation:
- A 15-year-old female presented with multiple pulmonary tumors, a history of GIST treated with gastrectomy at age 13, and diagnosed pulmonary chondromas.
- The patient experienced progressive tumor enlargement and hemoptysis, necessitating a left pneumonectomy.
- The case highlights the long-standing manifestation of all three tumor types in Carney triad.
Findings:
- The patient's clinical course underscores the aggressive nature of GIST and paragangliomas, which are often associated with poor prognosis.
- Surgical intervention, including pneumonectomy, was required to manage symptomatic pulmonary disease.
Implications:
- This case emphasizes the critical need for vigilant, long-term surveillance in patients diagnosed with Carney triad.
- Early detection and multidisciplinary management are essential to improve outcomes for this rare disease complex.