Haleema Hayat & Stephen G Gilbey
Carneys Triad is a rare syndrome, with fewer than 30 cases reported with all three tumors (Gastrointestinal stromal tumor, extra-adrenal paraganglioma and pulmonary chondroma) present, and less than 100 cases with two of the three tumor types.
We report a 45 yr old female who presented with bloating, dizziness, sweating and palpitations. Physical examination was unremarkable. Biochemistry showed a normal hormonal profile, 24 hrs urinary catecholamines & 5HIAA. Echocardiography did not show any cardiac lesions. She had undergone partial gastrectomy in 1984 with completion gastrectomy in 1987 for a malignant epithelioid stromal tumour, most likely a leiomyosarcoma. Subsequently a chondroma of left chest wall was resected. An unresectable 2.6×2.2 cm para-aortic paraganglioma was noted in 1999 which has been managed conservatively and remains unchanged on subsequent CT scans. In 2003 her CT abdomen revealed bilateral adrenal lesions consistent with non-functioning adenoma. 24 urinary catecholamines have been normal. She continued to have episodes of explosive diarrhoea and abdominal pain. A trial of s/c octreotide 50 mcg bd provided a degree of symptom relief.
Carneys Triad predominantly affects females and the first tumor identified is most frequently a gastrointestinal stromal tumor, usually epithelioid, as in our patient. Most paragangliomas are extradrenal and nonfunctional. Pulmonary Chondromas are benign hamartomas. Sometimes it displays characteristic diffuse popcorn calcification.
The time interval between the appearances of the neoplastic lesions can be decades and tumors can appear in any order. Gastric leiomyosarcoma is most prevalent (97%), followed by pulmonary chondroma (83%) and paraganglioma (53%). The complete triad is present in ∼33% of cases. Due to rarity of these tumors, the presence of any two of them is regarded as sufficient basis for making the diagnosis. The overall mortality of the triad is approximately 20%.