Gallbladder Paraganglioma Associated with SDHD Mutation: a Potential Pitfall on 18F-FDOPA PET Imaging

Abstract

A 36-year-old male patient initially presented with hypertension, tinnitus, bilateral carotid masses, a right jugular foramen, and a periaortic arch mass with an elevated plasma dopamine level but an otherwise normal biochemical profile. On surveillance MRI 4 years after initial presentation, he was found to have a 2.2-cm T2 hyperintense lesion with arterial enhancement adjacent to the gallbladder, which demonstrated avidity on 68 Ga-DOTATATE PET/CT and retrospectively on 18 F-FDOPA PET/CT but was nonavid on 18 F-FDG PET/CT. Biochemical work-up including plasma catecholamines, metanephrines, and chromogranin A levels were found to be within normal limits. This lesion was surgically resected and was confirmed to be a paraganglioma (PGL) originating from the gallbladder wall on histopathology. Pheochromocytoma (PHEO) and PGL are rare tumors of the autonomic nervous system. Succinate dehydrogenase subunit D (SDHD) pathogenic variants of the succinate dehydrogenase complex are usually involved in parasympathetic, extra-adrenal, multifocal head, and neck PGLs. We report an unusual location of PGL in the gallbladder associated with SDHD mutation which could present as a potential pitfall on 18 F-FDOPA PET/CT as its normal excretion occurs through biliary system and gallbladder. This case highlights the superiority of 68 Ga-DOTATATE in comparison to 18 F-FDOPA and 18 F-FDG in the detection of SDHD-related parasympathetic PGL.ClinicalTrials.gov Identifier: NCT00004847.

Gallbladder Paraganglioma: A Mysterious Histological Finding

“…In three cases, abnormal appearance of the gallbladder was detected on imaging performed for symptoms not related to the gallbladder (one computed tomography (CT) of the chest and two positron emission tomography (PET)) [ 2 , 4 , 5 ]. Two out of these three cases underwent cholecystectomy, confirming the presence of gallbladder paraganglioma histologically [ 4 , 6 ]. Interestingly, the two cases that were found on the PET scan were associated with synchronous pancreatic neuroendocrine tumor and other paragangliomas [ 4 , 5 ].…”

“…The case report by Mahin et al showed that gallbladder paraganglioma was intensively hyper-enhancing in the arterial phase on CT, raising concern for malignancy, which prompted cholecystectomy [ 2 ]. Abdul Sater et al, who reported a case of a 38-year-old male with succinate dehydrogenase subunit D ( SDHD ) gene mutation, suggested Gallium-DOTATATE positron emission tomography (PET) as an essential follow-up investigation for any patients with hereditary paragangliomas, as the gallbladder paraganglioma in this male lacked F-fluorodeoxyglucose (F-FDG) avidity but was intensely avid with Gallium-DOTATATE [ 6 ].…”

Gallbladder Paraganglioma- A Rare Case Report

“…Only 13 cases of GP have been reported in the literature so far. [1][2][3][4][5][6][7][8][9][10][11] We aimed to present a non-functional gallbladder paraganglioma.…”

Gallbladder paraganglioma with hemorrhage: A case report and literature review

“…It can occur in various organs associated with sympathetic and parasympathetic nerves. Gallbladder paraganglioma (GP) is rare, with only 12 cases reported in the literature to date [ 1 - 11 ]. According to reported cases, GP usually presents non-specific symptoms such as abdominal pain owing to associated cholecystitis, although it does occasionally present symptoms of gastrointestinal bleeding [ 4 ].…”