Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad

Abstract

The Carney triad (CT) describes the coexistence of multiple neoplasms including gastrointestinal stromal tumors (GISTs), extra-adrenal paraganglioma and pulmonary chondroma. At least two neoplastic tumors are required for diagnosis. In most cases, however, CT is incomplete. We report a case of an incomplete CT in a 34-year-old woman with a multifocal GIST and non-functional paraganglioma of the liver. Preoperative evaluation with a gastrofiberscope and abdominal computed tomography revealed multiple gastric tumors resembling GISTs and a single liver lesion which was assumed to have metastasized from the gastric tumors. The patient underwent total gastrectomy and partial hepatectomy. Histologic findings confirmed multiple gastric GISTs and paraganglioma of the liver. We report a case of a patient with incomplete expression of CT.

Keywords: Carney triad; Gastrointestinal stromal tumor; Paraganglioma.

Figure 1

Esophagogastroduodenoscopy. A: Gastroendoscopy revealed an antral submucosal tumor without ulceration and hemorrhage; B: Computed tomography revealed a hypoattenuating nodule in segment VII of the liver, with peripheral weak enhancement in the portal phase (arrow).

Figure 2

The patient underwent total gastrectomy, regional lymphadenectomy, and partial hepatectomy of segment VII. A: Macroscopically, gastric tumors were located in the submucosal layer, were round to oval and, relatively well demarcated, and exhibited multiple nodules (n = 8); B: Gastric tumor demonstrated cellular epithelioid gastrointestinal stromal tumors with discohesive pattern of growth (HE, × 40) and mild nuclear atypia (hematoxylin and eosin, × 200) (lower right), exhibiting diffuse cytoplasmic membranous immunoreactivity for CD117 (immunohistochemical stain, × 200) (upper right); C: Hepatic partial resection revealed an oval, well circimscribed, orange yellow, soft, solid tumor, 12 mm × 7 mm (left) and microscopically, synaptophysin-positive, hepatic tumor cells were arranged in nests (so called‘zellballen’) (right), surrounded by S100 protein-positive, sustentacular cells (immunohistochemical stain, × 400).