The first reports of the Carney triad described the association of gastrointestinal stromal tumors (GISTs) of the stomach, pulmonary chondromas, and extra-adrenal paragangliomas; however, less than 2% of patients in the original series had all three tumors at diagnosis (1). Carney triad is a rare condition caused by deficiency of succinate dehydrogenase related to hypermethylation of the SDHC gene (2), predominantly affecting young women. Although designated as a triad, at least five different tumors can occur, including adrenocortical tumors and esophageal leiomyomas (3). Patients do not respond to the typical treatment for GIST (ie, tyrosine kinase inhibitors) due to differences in the pathophysiologic mechanisms compared with the sporadic adult form (4). GISTs can metastasize and usually determine prognosis, but long-term survival is generally favorable (5) (Figure).
Images in a 28-year-old female patient with epigastric pain and submucosal gastric masses at endoscopy. (a) Axial abdominal contrast material–enhanced CT image demonstrates enhancing mass at the gastric antrum (arrow) and a small nodule anterior to the stomach body (*). (b) A nodule in the left upper lobe (arrow) with ring and arc calcification was seen on coronal contrast-enhanced CT image. On axial (c) pre- and (d) postcontrast T1-weighted fat-suppressed MR images, a left avidly enhancing para-aortic mass (arrow) was also present. The gastric nodules and left para-aortic mass represented gastrointestinal stromal tumors (GISTs) and paraganglioma after resection, respectively. The constellation of GIST, paraganglioma, and pulmonary chondroma (pulmonary nodule with chondroid matrix) configures the Carney triad.
Images in a 28-year-old female patient with epigastric pain and submucosal gastric masses at endoscopy. (a) Axial abdominal contrast material–enhanced CT image demonstrates enhancing mass at the gastric antrum (arrow) and a small nodule anterior to the stomach body (*). (b) A nodule in the left upper lobe (arrow) with ring and arc calcification was seen on coronal contrast-enhanced CT image. On axial (c) pre- and (d) postcontrast T1-weighted fat-suppressed MR images, a left avidly enhancing para-aortic mass (arrow) was also present. The gastric nodules and left para-aortic mass represented gastrointestinal stromal tumors (GISTs) and paraganglioma after resection, respectively. The constellation of GIST, paraganglioma, and pulmonary chondroma (pulmonary nodule with chondroid matrix) configures the Carney triad.
Images in a 28-year-old female patient with epigastric pain and submucosal gastric masses at endoscopy. (a) Axial abdominal contrast material–enhanced CT image demonstrates enhancing mass at the gastric antrum (arrow) and a small nodule anterior to the stomach body (*). (b) A nodule in the left upper lobe (arrow) with ring and arc calcification was seen on coronal contrast-enhanced CT image. On axial (c) pre- and (d) postcontrast T1-weighted fat-suppressed MR images, a left avidly enhancing para-aortic mass (arrow) was also present. The gastric nodules and left para-aortic mass represented gastrointestinal stromal tumors (GISTs) and paraganglioma after resection, respectively. The constellation of GIST, paraganglioma, and pulmonary chondroma (pulmonary nodule with chondroid matrix) configures the Carney triad.
Images in a 28-year-old female patient with epigastric pain and submucosal gastric masses at endoscopy. (a) Axial abdominal contrast material–enhanced CT image demonstrates enhancing mass at the gastric antrum (arrow) and a small nodule anterior to the stomach body (*). (b) A nodule in the left upper lobe (arrow) with ring and arc calcification was seen on coronal contrast-enhanced CT image. On axial (c) pre- and (d) postcontrast T1-weighted fat-suppressed MR images, a left avidly enhancing para-aortic mass (arrow) was also present. The gastric nodules and left para-aortic mass represented gastrointestinal stromal tumors (GISTs) and paraganglioma after resection, respectively. The constellation of GIST, paraganglioma, and pulmonary chondroma (pulmonary nodule with chondroid matrix) configures the Carney triad.
Footnotes
Disclosures of Conflicts of Interest: M.S. disclosed no relevant relationships. P.A. Activities related to the present article: disclosed no relevant relationships. Activities not related to the present article: disclosed money paid to author for visiting professorship at Sichuan Provincial Hospital and for Philippines US and CT society. Other relationships: disclosed no relevant relationships. E.L. disclosed no relevant relationships.
References
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