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Carney’s Triad Tumour

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Posted by fatima.shakeel@opmc.co | May 11, 2025

What Is Carney’s Triad Tumour?

Carney’s Triad Tumour is a rare, non-hereditary condition characterised by the occurrence of three types of tumours:

  • Gastrointestinal Stromal tumours (GISTs): Cancers that arise in the digestive tract, most commonly the stomach or small intestine. 
  • Pulmonary Chondromas: Benign (non-cancerous) cartilage tumours in the lungs. 
  • Paragangliomas: Hormone-producing tumours that form outside the adrenal glands.

This condition primarily affects young women, typically in their twenties. Fewer than 100 cases have been reported worldwide.

Causes

The exact cause of Carney’s Triad Tumour remains unknown. However, some cases have been linked to abnormalities in succinate dehydrogenase (SDH)—an enzyme involved in cellular energy production.
Importantly, Carney’s Triad is not inherited and does not run in families.

Signs and Symptoms

Most individuals initially present with two of the three tumour types. Symptoms vary depending on the tumour type and location, but may include:

  • Gastrointestinal bleeding 
  • Abdominal pain 
  • Anemia (low red blood cell count) 
  • Detectable mass in the abdomen 
  • Fatigue 
  • Loss of appetite 
  • Headaches 
  • High blood pressure 
  • Rapid heart rate

Diagnosis

Diagnosing Carney’s Triad involves several tests to identify and characterise the tumours:

  • Imaging (CT scan or MRI): To determine the size, location, and extent of tumours. 
  • Gastroscopy and Endoscopy: Use of a camera to visually examine the stomach and intestines. 
  • tumour Biopsy: Removal of a tissue sample to confirm tumour type. 
  • Genetic Testing: May help identify underlying metabolic or enzymatic abnormalities. 

Note: Even if only two of the three tumours are present initially, the third may develop years later, requiring ongoing monitoring.

Treatment

Surgery is the primary treatment for Carney’s Triad and is typically tailored to the tumour type:

  • GISTs: Surgical removal is often effective, though recurrence is possible. Targeted therapy with Imatinib may be used in some cases. 
  • Pulmonary Chondromas: Usually only require surgery if they cause breathing issues. 
  • Paragangliomas: Surgery is the first-line treatment. If malignant, additional therapies like chemotherapy or radiation may be needed. 

Lifelong follow-up and screening are essential to detect new tumours early and monitor for recurrence.


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