Gastrointestinal: Carney's triad complicated by a metastasized and bleeding gastrointestinal stromal tumor.

Abstract

A 29-year-old lady was found to have a left lung mass on routine chest X-ray. Computed tomography imaging showed a lung chondroma with multiple gastric and liver masses (Fig. 1a, arrows). Endoscopic ultrasound fine-needle biopsy with cell block of the stomach and liver masses confirmed KIT/PDGFR wild-type gastrointestinal stromal tumor (GIST) (Fig. 1b) with liver metastasis. No synchronous paragangliomas were detected. The patient was diagnosed with Carney's triad (lung chondroma and GIST) and kept under close surveillance. Six months later, she presented with symptomatic anemia. Esophagogastroduodenoscopy showed a Forrest 2B ulcer from the gastric GIST (Fig. 2). She was treated endoscopically with planned partial gastrectomy and Bilroth II reconstruction. Carney's triad is a rare condition with a young female preponderance, characterized by the coexistence of three-component tumors: lung chondroma, GIST, and extra-adrenal paraganglioma. Carney's triad is definitively diagnosed in the presence of all three tumors and tentatively diagnosed with two, usually GIST and pulmonary chondroma. Apart from a bleeding GIST, hepatic metastasis is a known but uncommon complication. Management for asymptomatic tumors within this triad should be close follow-ups to monitor disease progression. Curative resection is the mainstay of treatment for symptomatic GIST as the effectiveness of alternative therapies such as chemotherapy and radiotherapy are not known. Little is known about the genetic basis and prognosis of Carney's triad, calling for more research into this area. Special attention has to be paid to the possibility of Carney's triad when a young patient is found with any of the three tumors.