Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.
Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau gene. Recently, mutations in the prolyl hydroxylase gene (PHD) 1 and 2 and in the hypoxia-inducible factor 2 α (HIF2A) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered. Because the functional imaging signature of patients with PPGL-polycythemia syndromes is still unknown, and because these tumors (in most patients) are multiple, recurrent, and metastatic, the goal of our study was to assess the optimal imaging approach using 4 different PET radiopharmaceuticals and CT/MRI in these patients.Methods:Fourteen patients (10 women, 4 men) with confirmed PPGL and polycythemia prospectively underwent68Ga-DOTATATE (13 patients),18F-FDG (13 patients),18F-fluorodihydroxyphenylalanine (18F-FDOPA) (14 patients),18F-fluorodopamine (18F-FDA) (11 patients), and CT/MRI (14 patients). Detection rates of PPGL lesions were compared between all imaging studies and stratified between the underlying mutations.Results:18F-FDOPA and18F-FDA PET/CT showed similar combined lesion-based detection rates of 98.7% (95% confidence interval [CI], 92.7%-99.8%) and 98.3% (95% CI, 90.9%-99.7%), respectively. The detection rates for68Ga-DOTATATE (35.3%; 95% CI, 25.0%-47.2%),18F-FDG (42.3; 95% CI, 29.9%-55.8%), and CT/MRI (60.3%; 95% CI, 48.8%-70.7%) were significantly lower (P< 0.01), irrespective of the mutation status.Conclusion:18F-FDOPA and18F-FDA are superior to18F-FDG,68Ga-DOTATATE, and CT/MRI and should be the radiopharmaceuticals of choice in this rare group of patients.
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.|Department of Radiology and Nuclear Medicine, Section of Nuclear Medicine, University Hospital Schleswig Holstein, Lübeck, Germany.
Ingo
I
Janssen
Nuclear Medicine Division, Radiology & Imaging Sciences, National Institutes of Health, Bethesda, Maryland.
Clara C
CC
Chen
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Zhenping
Z
Zhuang
Positron Emission Tomography Department, National Institutes of Health, Bethesda, Maryland.
Corina M
CM
Millo
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Katherine I
KI
Wolf
Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, Maryland.
Alexander
A
Ling
Cancer Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Frank I
FI
Lin
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Karen T
KT
Adams
Positron Emission Tomography Department, National Institutes of Health, Bethesda, Maryland.
Peter
P
Herscovitch
Division of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Richard A
RA
Feelders
Endocrine Oncology Branch, National Cancer Institute, Bethesda, Maryland.
Antonio T
AT
Fojo
Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France; and.
David
D
Taieb
Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Electron
E
Kebebew
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland karel@mail.nih.gov.
Karel
K
Pacak
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D010235:Paraganglioma / Q000150:complications*; D011086:Polycythemia / Q000150:complications* / Q000175:diagnosis*; D055815:Young Adult
18F-FDA; 18F-FDOPA; paraganglioma; pheochromocytoma; polycythemia