Incomplete Carney Triad
Steven G Waguespack, Neeta Somaiah, Jeffrey E Lee, Khaled M Elsayes
Abstract
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Taxonomy
TopicsCardiac tumors and thrombi · Cardiac Structural Anomalies and Repair · Congenital Heart Disease Studies
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A 20-year-old woman with a noncontributory family history was diagnosed with a gastrointestinal stromal tumor (GIST) metastatic to liver and lymph nodes after she developed hematemesis. Computed tomography (Fig. 1) identified multifocal gastric tumors and an intensely enhancing mass (arrowhead) located adjacent to the left adrenal gland (arrows); no lesions were identified in the lungs. The GIST was wild-type (no somatic KIT or PDGFRA pathogenic variants) and equivocal for succinate dehydrogenase complex, subunit B (SDHB), expression on immunohistochemistry. The patient was treated with imatinib followed by surgery. Because of intense uptake in the left adrenal/periadrenal mass identified on a subsequent ^18^F-fluorodeoxyglucose positron emission tomography/computed tomography scan, a laparoscopic retroperitoneoscopic adrenalectomy was pursued. Preoperatively, she was normotensive with no symptoms of catecholamine excess; fractionated urinary catecholamines and plasma metanephrines were normal. Pathology revealed a 2-cm SDHB-deficient paraganglioma (PGL). Genetic testing revealed no germline pathogenic variants in the genes of the SDH complex or in any other PGL susceptibility gene. The Carney triad is a syndromic but nonhereditary disorder related to SDHC promoter hypermethylation (1). It affects young women and is characterized by wild-type, SDH-deficient GISTs, PGLs, and pulmonary chondromas, although not every patient manifests all 3 clinical components, in which case it is known as incomplete Carney triad (2).
Incomplete Carney Triad in a 20-year-old woman presenting with hematemesis and diagnosed with metastatic gastrointestinal stromal tumor (GIST). An axial image from a contrast-enhanced computed tomography of the abdomen shows a GIST and a paraganglioma (PGL) located adjacent to the normal left adrenal gland (arrows).
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- 1Pitsava G, Settas N, Faucz FR, Stratakis CA. Carney triad, Carney-Stratakis syndrome, 3PAS and other tumors due to SDH deficiency. Front Endocrinol (Lausanne). 2021;12:680609.34012423 10.3389/fendo.2021.680609 PMC 8126684 · doi ↗ · pubmed ↗
- 2Mangana O, Perrot L, Foussier C, et al Incomplete carney triad: a surgical case of a rare syndrome. Ann Thorac Surg. 2022;113(1):e 53‐e 55.33757739 10.1016/j.athoracsur.2021.03.028 · doi ↗ · pubmed ↗