Functional Imaging Experience in a Germline Fumarate Hydratase Mutation–Positive Patient With Pheochromocytoma and Paraganglioma
| Autor: | Karen T. Adams, Joan Nambuba, Chunzhang Yang, Ingo Janssen, Karel Pacak, Corina Millo, Petra Bullova, Andrea Kassai, Roland Därr, Zhengping Zhuang, Electron Kebebew, Isabelle Bourdeau |
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| Rok vydání: | 2016 |
| Předmět: |
Pathology
medicine.medical_specialty medicine.diagnostic_test biology business.industry SDHB Chromogranin A 030209 endocrinology & metabolism Magnetic resonance imaging General Medicine RC648-665 medicine.disease Diseases of the endocrine glands. Clinical endocrinology Pheochromocytoma 03 medical and health sciences 0302 clinical medicine Positron emission tomography Paraganglioma 030220 oncology & carcinogenesis medicine biology.protein Immunohistochemistry Medical history business Nuclear medicine |
| Zdroj: | AACE Clinical Case Reports, Vol 2, Iss 3, Pp e176-e181 (2016) |
| ISSN: | 2376-0605 |
| DOI: | 10.4158/ep15759.cr |
| Popis: | Objective: To report the functional imaging experience with a 29-year-old woman carrying a mutation in the fumarate hydratase (FH)-encoding gene and a history of a pheochromocytoma (PHEO) and retroperitoneal paraganglioma (PGL).Methods: The patient was found to have a splice-site mutation in the FH gene at intron 2, c.268-2A>G. To confirm this, immunohistochemical staining was performed on tumor tissue slides from the patient's previous surgeries. The patient underwent biochemical testing for PHEO/PGL, which included chromogranin A and plasma methoxytyramine. The patient's tumors were also imaged using several imaging modalities, including computed tomography (CT), magnetic resonance imaging, ultrasound, and positron emission tomography (PET)/CT studies using [18F]-fluorodeoxyglucose ([18F]-FDG), [18F]-fluorodopamine ([18F]-FDA), [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA), and [68Ga]-tetraazacyclododecanetetraacetic acid–[Tyr3]-octreotate ([68Ga]-DOTATATE) as tracers.Results: The patient received a comprehensive evaluation based on her symptoms and medical history. She was found to have 3 noradrenergic-secreting tumors that showed uptake on [18F]-FDG-(2/3), [68Ga]-DOTATATE-(2/3), [18F]-FDOPA-(3/3), and [18F]-FDA-(3/3) PET/CT. The patient was recommended to have the tumor sites removed (renal hilum, aortocaval, and periaortic regions) with lympadenectomies to address possible metastases. Pathology confirmed paraganglioma. Immunohistochemical staining from previous surgical slides showed negative staining for FH, consistent with a mutation in the gene.Conclusion: We share, for the first time, functional images for an FH mutation–positive PHEO/PGL patient using various PET radiopharmaceuticals. [18F]-FDA- and [18F]-FDOPA PET/CT served as the best imaging modalities. This case provides the appropriate selection of imaging studies and further evidence for the importance of screening for FH mutations in patients with noradrenergic PHEOs/PGLs.Abbreviations: CT = computed tomography [18F]-FDA = [18F]-fluorodopamine [18F]-FDG = [18F]-fluorodeoxyglucose [18F]-FDOPA = [18F]-fluorodihydroxyphenylalanine FH = fumarate hydratase [68Ga]-DOTATATE = [68Ga]-tetraazacyclododecanetetraacetic acid–[Tyr3]-octreotate MTY = methoxytyramine NIH = National Institutes of Health PET = positron emission tomography PGL = paraganglioma PHEO = pheochromocytoma SDHB = succinate dehydrogenase complex, subunit B URL = upper reference limit |
| Databáze: | OpenAIRE |
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