Carney’s Triad

History: A 77-year-old woman presented to the emergency department complaining of diarrhea for five days and abdominal pain.

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Figure 1. Axial CT scan of the abdomen and pelvis with oral contrast only shows an intraluminal lobular gastric submucosal mass. The mass is homogeneously low in attenuation.

The patient’s past medical history was significant for multiple medical problems including noninsulin-dependent diabetes mellitus, chronic renal failure, anemia, multiple myeloma, and secondary hyperparathyroidism. Her past surgical history included prior thoracotomy and laparotomy. Review of her imaging history included multiple prior chest and abdominal CT scans, which showed characteristic lesions associated with Carney’s triad.

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Figure 2. CT scan of the chest without contrast show a large middle mediastinal mass.

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Figure 3. T2W MR of the chest with IV gadolinium shows a 5.3 cm middle mediastinal mass. The mass is lobulated and well-defined and shows high signal intensity on T2. The mass showed intense homogeneously enhancement on post-contrast sequences (not shown).

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Figure 4. Axial CT scan of the chest without contrast (lung windows) shows an irregular noncalcified 1.3 cm ground-glass nodule in the left upper lobe with notched borders.

Findings: A review of images provided by the CT scan of the abdomen (with oral contrast enhancement), MRI of the chest (with intravenous gadolinium enhancement), and CT scan of the chest (without contrast) acquired over a lapse of several years was critical to identifying the relationship between the findings, and ultimately suggesting the diagnosis of Carney’s triad.

Diagnosis: Carney’s triad

Discussion: As first described by Dr. Aiden Carney in 1977, the Carney triad is a rare syndrome that includes gastric sarcomas, pulmonary chondromas, and extra-adrenal paragangliomas. The unique pattern of clinical and imaging findings that he observed in four young women was thought to be related to a syndrome, rather than a coincidence.^1,3 There are very few cases reported in the radiology literature.

There are fewer than 30 complete cases reported, presenting with all three tumor types, and fewer than 100 incomplete cases, having two of the three tumor types present. Incomplete cases most frequently consist of GISTs and pulmonary chondromas (53 percent).¹

The first tumor, often appearing in adolescence, is a GIST. A significant time lapse between the presentation of the first tumor and the second tumor may occur, warranting that all pediatric GIST cases be considered as potential cases of Carney’s Triad. If two of the neoplasms are present, a presumptive diagnosis of the triad can be made, especially if age and sex factors are collaborative.⁴ Overall, 75 percent of presenting symptoms are secondary to GISTs, with symptomatology including anemia and hematemesis, while 15 percent of patients are diagnosed after an incidental mass is detected on a chest radiograph, and 10 percent of patients present with symptoms related to paragangliomas, most notably hypertension.^2,3 Since two components of the triad are potentially lethal, all patients less than 35 years of age who present with any one of the three tumors should be examined periodically in search of the others.⁴

Valerie D'Aurora, MD andMichael Sadler, MDNewark Beth Israel Medical Center