A rare case of multiple paragangliomas in the head and neck, retroperitoneum and duodenum: A case report and review of the literature

Abstract

Pheochromocytomas and paragangliomas (PGLs) are rare non-epithelial neuroendocrine neoplasms of the adrenal medulla and extra-adrenal paraganglia respectively. Duodenal PGL is quite rare and there are only two previous reports. Herein, we report a case of multiple catecholamines (CAs)-producing PGLs in the middle ear, retroperitoneum, and duodenum, and review the literature of duodenal PGLs. A 40-year-old man complained right-ear hearing loss, and an intracranial tumor was suspected. Magnetic resonance imaging of the head revealed a 3-cm mass at the right transvenous foramen, which was surgically resected following preoperative embolization. The pathological diagnosis was a sympathetic PGL of the right middle ear. Six years later, family history of PGL with germline mutation of succinate dehydrogenase complex iron sulfur subunit B, SDHB: c.268C>T (p.Arg90Ter) was clarified. The patient had elevated levels of plasma and urine CAs again. Abdominal computed tomography scanning revealed two retroperitoneal tumors measuring 30-mm at the anterior left renal vein and 13-mm at near the ligament of Treitz. The larger tumor was laparoscopically resected, but the smaller tumor was not identified by laparoscopy. After the operation, the patient remained hypertensive, and additional imaging tests suggested a tumor localized in the duodenum. The surgically resected tumor was confirmed to be a duodenal PGL. After that, the patient remained hypertension free, and urinary levels of noradrenaline and normetanephrine decreased to normal values. No recurrence or metastasis has been found at 1 year after the second operation. CAs secretion from PGLs in unexpected location, like the duodenum of our patient, may be overlooked and leads to a hypertensive crisis. In such cases, comprehensive evaluation including genetic testing, fluorodeoxyglucose-positron emission tomography scanning, and measurement of CAs will be useful for detecting PGLs. Most previous reports on duodenal PGL were gangliocytic PGL which has been renamed composite gangliocytoma/neuroma and neuroendocrine tumor, and defined the different tumor from duodenal PGL. We reviewed and discussed duodenal PGLs in addition to multiple PGLs associated with SDHB mutation.

Keywords: catecholamine-secreting tumor; duodenal paraganglioma; head and neck paraganglioma (HNPGL); hereditary paraganglioma; multiple paragangliomas; succinate dehydrogenase B mutation.

Figure 1

MRI, CT, 18F-FDG-PET, and MIBG imaging results. (A–C) MRI of the head revealed an approximately 3-cm mass at the right transvenous foramen. (D, E) Enhanced abdominal CT revealed two tumors in the retroperitoneum: a nodal tumor measuring 30 mm (arrow) on the anterior left renal vein and (G, H) a tumor measuring 13 mm (arrow) near the ligament of Treitz. (F, I, J) 18F-FDG-PET showed accumulation in both tumors [(1) the tumor measuring 30 mm (wide arrow) and (2) the tumor measuring 13 mm (narrow arrow)]. (K) MIBG scintigraphy showed accumulation in an area consistent with a mass (arrow). (L, M) Esophagogastroduodenoscopy and enteroscopy did not identify the smaller tumor. (N, O) MRI, magnetic resonance imaging; CT, computed tomography; FDG-PET, fluorodeoxyglucose-positron emission tomography; MIBG, 123I-metaiodobenzylguanidine.

Figure 2

Pathological findings of the paraganglioma of the duodenum. (A, B) Gross findings of the duodenal tumor. (C) Hematoxylin and eosin staining, high-power field. The tumor was positive for chromogranin A (D) and tyrosine hydroxylase (E) but negative for SDHB (F) and ChAT (G). SDHB, succinate dehydrogenase complex iron sulfur subunit B; ChAT, choline acetyltransferase.