Unlabelled: Paragangliomas and pheochromocytomas are genetically heterogeneous diseases. The purpose of this study was to determine the sensitivity and specificity of PET with 3,4-dihydroxy-6-(18)F-fluoro-L-phenylalanin ((18)F-DOPA) for the detection and staging of pheochromocytomas/paragangliomas. Furthermore, we assessed whether the genotypes of pheochromocytomas and paragangliomas correlate with the uptake of (18)F-DOPA.
Methods: We retrospectively analyzed 101 consecutive patients who underwent (18)F-DOPA PET or (18)F-DOPA PET/CT for known or suspected pheochromocytomas or paragangliomas. Maximum (18)F-DOPA tumor uptake was quantified relative to uptake in the liver.
Results: Histopathology, cross-sectional imaging, and follow-up indicated the presence of paragangliomas and pheochromocytomas in 68 patients and the absence of a tumor in 33 patients. The average (18)F-DOPA uptake by paragangliomas and pheochromocytomas, expressed as a tumor-to-liver ratio, was 5.9 ± 5.2. There was no significant difference in uptake among patients with von Hippel Lindau syndrome (VHL; n = 19), succinate dehydrogenase B-D mutation (n = 21), neurofibromatosis type 1 (n = 1), RET (n = 1), no germline mutation (n = 20), or unknown mutation status (n = 6) (P = 0.84). All 8 patients with an SDHD mutation were true-positive on (18)F-DOPA PET. There were 2 cases of false-negative results each in the group with SDHB (2/12) and VHL mutations (2/19) and 1 false-negative result in the subgroup of patients with unknown mutation status (1/6). Overall, (18)F-DOPA PET yielded a sensitivity of 93% and a specificity of 88% for the detection of paragangliomas and pheochromocytomas on a patient basis (positive and negative predictive value, 94% and 85%, respectively).
Conclusion: (18)F-DOPA PET is a sensitive and specific imaging modality for the detection and staging of pheochromocytomas and paragangliomas in different genotypes, including VHL-, SDHB-, and SDHD-mutation carriers, and in patients with no germline mutation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.2967/jnumed.111.101303 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Extra-adrenal Pheochromocytoma of the Urinary Bladder in an Adolescent Female Patient.
Cureus
December 2024
Pediatric Radiology, Detroit Medical Center, Wayne State University, Detroit, USA.
Pheochromocytoma is a catecholamine-secreting tumor that arises from the medullary chromaffin cells but can rarely be extra-adrenal in origin. We present a case of a 16-year-old female patient with uncontrolled hypertension, despite being on lisinopril and metoprolol, and associated left-sided chest pain, recurrent headaches, and an unintentional weight loss of 10 pounds in one month. Laboratory work-up showed a markedly elevated plasma metanephrine level of 4463.
View Article and Find Full Text PDFHead and Neck Paraganglioma in Pacak-Zhuang Syndrome.
JNCI Cancer Spectr
January 2025
Section on Medical Neuroendocrinology National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, 20892, MD, USA.
Head and neck paragangliomas (HNPGLs) are typically slow-growing, hormonally inactive tumors of parasympathetic paraganglia. Inactivation of prolyl-hydroxylase domain-containing 2 protein causing indirect gain-of-function of hypoxia-inducible factor-2α (HIF-2α), encoded by EPAS1, was recently shown to cause carotid body hyperplasia. We previously described a syndrome with multiple sympathetic paragangliomas caused by direct gain-of-function variants in EPAS1 (Pacak-Zhuang syndrome, PZS) and developed a corresponding mouse model.
View Article and Find Full Text PDFAnalysis of Urinary Metanephrines Using Liquid Chromatography Tandem Mass Spectrometry.
Methods Mol Biol
January 2025
Analytic Biochemistry, Calculi and Manual Chemistry, Mass Spectrometry, ARUP Laboratories, Inc., Salt Lake City, UT, USA.
Metanephrines (metanephrine [MN] and normetanephrine [NMN]) are O-methylated metabolites derived from the catecholamines, epinephrine, and norepinephrine, respectively. High concentrations of metanephrines have been observed in individuals with pheochromocytoma, a neuroendocrine tumor. Measurement of metanephrines in urine is used to screen for the tumor.
View Article and Find Full Text PDFIncidental left paraaortic mass in a patient with gall bladder adenocarcinoma: A diagnostic challenge.
Radiol Case Rep
March 2025
Department of Pathology, Bir Hospital, Kathmandu, Nepal.
Incidental adrenal masses are frequently detected due to the extensive use of cross-sectional imaging, with about 3% to 7% of adults estimated to have them. Paragangliomas and pheochromocytomas (PPGL), rare tumors originating from paraganglia tissues, including the adrenal medulla, continue to be imaging mimics, necessitating a multimodal approach for accurate diagnosis. We report a case of 72-years male presenting with intermittent pain abdomen for the past 1 year.
View Article and Find Full Text PDFImpact of sex hormones on pheochromocytomas, paragangliomas, and gastroenteropancreatic neuroendocrine tumors.
Eur J Endocrinol
January 2025
Department of Internal Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany.
Objective: The effects of sex hormones remain largely unexplored in pheochromocytomas and paragangliomas (PPGLs) and gastroenteropancreatic neuroendocrine tumors (GEP-NETs).
Methods: We evaluated the effects of estradiol, progesterone, Dehydroepiandrosterone sulfate (DHEAS), and testosterone on human patient-derived PPGL/GEP-NET primary culture cell viability (n = 38/n = 12), performed next-generation sequencing and immunohistochemical hormone receptor analysis in patient-derived PPGL tumor tissues (n = 36).
Results: In PPGLs, estradiol and progesterone (1 µm) demonstrated overall significant antitumor effects with the strongest efficacy in PPGLs with NF1 (cluster 2) pathogenic variants.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!