+1 Recommend
1 collections
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma

      1 , 1 , 1 , 1 , 1 , 2 , 2 , 1 , 1 , 1 , 4 , 3 , 4 , 1
      Endocrinology, Diabetes & Metabolism Case Reports
      Bioscientifica Ltd
      Adult, Male, White, United States, United Kingdom, Adrenal, Adrenal, Gastrin, Metanephrines, Normetanephrine, Adrenaline, Noradrenaline, Cortisol, Cortisol, MEN1, Phaeochromocytoma, Hypercalcaemia, Hyperparathyroidism (primary), Hypercalcaemia, Lipoma*, Pancreatic cysts*, PET scan, CT scan, Adrenal scintigraphy, MRI, Calcium (serum), Phosphate (serum), Haemoglobin A1c, Gastrin, Epinephrine (plasma), Metanephrines (plasma), Metanephrines (urinary), Noradrenaline, Norepinephrine, Normetanephrine, Adrenal function, Chromogranin A, DNA sequencing, Polymerase Chain Reaction, Molecular genetic analysis, Histopathology, S100*, Radionuclide imaging, Haematoxylin and eosin staining, PTH, Cortisol, free (24-hour urine), Dexamethasone suppression, Adrenalectomy, Laparoscopic adrenalectomy, Parathyroidectomy, Novel diagnostic procedure, March, 2020

      Read this article at

          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.



          Pheochromocytoma (PHEO) in multiple endocrine neoplasia type 1 (MEN1) is extremely rare. The incidence is reported as less than 2%. We report a case of a 76-year-old male with familial MEN1 who was found to have unilateral PHEO. Although the patient was normotensive and asymptomatic, routine screening imaging with CT demonstrated bilateral adrenal masses. The left adrenal mass grew from 2.5 to 3.9 cm over 4 years with attenuation values of 9 Hounsfield units (HU) pre-contrast and 15 HU post-contrast washout. Laboratory evaluation demonstrated an adrenergic biochemical phenotype. Both 18F-fluorodeoxyglucose ( 18F-FDG) PET/CT and 123I-metaiodobenzylguanidine ( 123I-mIBG) scintigraphy demonstrated bilateral adrenal uptake. In contrast, 18F-fluorodihydroxyphenylalanine ( 18F-FDOPA) PET/CT demonstrated unilateral left adrenal uptake (28.7 standardized uptake value (SUV)) and physiologic right adrenal uptake. The patient underwent an uneventful left adrenalectomy with pathology consistent for PHEO. Post-operatively, he had biochemical normalization. A review of the literature suggests that adrenal tumors >2 cm may be at higher risk for pheochromocytoma in patients with MEN1. Despite a lack of symptoms related to catecholamine excess, enlarging adrenal nodules should be biochemically screened for PHEO. 18F-FDOPA PET/CT may be beneficial for localization in these patients.

          Learning points:
          • 18F-FDOPA PET/CT is a beneficial imaging modality for identifying pheochromocytoma in MEN1 patients.

          • Adrenal adenomas should undergo routine biochemical workup for PHEO in MEN1 and can have serious peri-operative complications if not recognized, given that MEN1 patients undergo frequent surgical interventions.

          • MEN1 is implicated in the tumorigenesis of PHEO in this patient.

          Related collections

          Most cited references34

          • Record: found
          • Abstract: found
          • Article: not found

          A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors.

          Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome, characterized primarily by multiple tumors in the parathyroid glands, endocrine pancreas, and anterior pituitary. Other tumors, including gastrinoma, carcinoid, adrenal cortical tumors, angiofibroma, collagenoma, and lipoma, also occur in some patients. Individuals with MEN1 almost always have loss-of-function mutations in the MEN1 gene on chromosome 11, and endocrine tumors arising in these patients usually show somatic loss of the remaining wild-type allele. To examine the role of MEN1 in tumor formation, a mouse model was generated through homologous recombination of the mouse homolog Men1. Homozygous mice die in utero at embryonic days 11.5-12.5, whereas heterozygous mice develop features remarkably similar to those of the human disorder. As early as 9 months, pancreatic islets show a range of lesions from hyperplasia to insulin-producing islet cell tumors, and parathyroid adenomas are also frequently observed. Larger, more numerous tumors involving pancreatic islets, parathyroids, thyroid, adrenal cortex, and pituitary are seen by 16 months. All of the tumors tested to date show loss of the wild-type Men1 allele, further supporting its role as a tumor suppressor gene.
            • Record: found
            • Abstract: found
            • Article: not found

            Multiple endocrine neoplasia type 1 (MEN1).

            Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal-dominant disorder characterised by the occurrence of tumours of the parathyroids, pancreas and anterior pituitary. The MEN1 gene, consists of 10 exons that encode a 610-amino acid protein referred to as Menin. Menin is predominantly a nuclear protein that has roles in transcriptional regulation, genome stability, cell division and proliferation. Germ-line mutations usually result in MEN1 or occasionally in an allelic variant referred to as Familial Isolated Hyperparathyroidism (FIHP). MEN1 tumours frequently have loss of heterozygosity (LOH) of the MEN1 locus, which is consistent with a tumour suppressor role of MEN1. Furthermore, somatic abnormalities of MEN1 have been reported in MEN1 and non-MEN1 endocrine tumours. To date, over 1300 mutations have been reported, and the majority (>70%) of these are predicted to lead to truncated forms of Menin. The mutations are scattered throughout the >9 kb genomic sequence of the MEN1 gene. Four, which consist of c.249_252delGTCT (deletion at codons 83-84), c.1546_1547insC (insertion at codon 516), c.1378C>T (Arg460Ter) and c.628_631delACAG (deletion at codons 210-211) have been reported to occur frequently in 4.5%, 2.7%, 2.6% and 2.5% of families, respectively. However, a comparison of the clinical features in patients and their families with the same mutations reveals an absence of phenotype-genotype correlations. The majority of MEN1 mutations are likely to disrupt the interactions of Menin with other proteins and thereby alter critical events in cell cycle regulation and proliferation. Copyright 2010 Elsevier Ltd. All rights reserved.
              • Record: found
              • Abstract: found
              • Article: not found

              European Association of Nuclear Medicine Practice Guideline/Society of Nuclear Medicine and Molecular Imaging Procedure Standard 2019 for radionuclide imaging of phaeochromocytoma and paraganglioma

              Diverse radionuclide imaging techniques are available for the diagnosis, staging, and follow-up of phaeochromocytoma and paraganglioma (PPGL). Beyond their ability to detect and localise the disease, these imaging approaches variably characterise these tumours at the cellular and molecular levels and can guide therapy. Here we present updated guidelines jointly approved by the EANM and SNMMI for assisting nuclear medicine practitioners in not only the selection and performance of currently available single-photon emission computed tomography and positron emission tomography procedures, but also the interpretation and reporting of the results. Guidelines from related fields and relevant literature have been considered in consultation with leading experts involved in the management of PPGL. The provided information should be applied according to local laws and regulations as well as the availability of various radiopharmaceuticals. Since the European Association of Nuclear Medicine 2012 guidelines, the excellent results obtained with gallium-68 ( 68 Ga)-labelled somatostatin analogues (SSAs) in recent years have simplified the imaging approach for PPGL patients that can also be used for selecting patients for peptide receptor radionuclide therapy as a potential alternative or complement to the traditional theranostic approach with iodine-123 ( 123 I)/iodine-131 ( 131 I)-labelled meta-iodobenzylguanidine. Genomic characterisation of subgroups with differing risk of lesion development and subsequent metastatic spread is refining the use of molecular imaging in the personalised approach to hereditary PPGL patients for detection, staging, and follow-up surveillance.

                Author and article information

                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                03 March 2020
                : 2020
                : 19-0156
                [1 ]Metabolic Diseases Branch , National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)
                [2 ]National Cancer Institute (NCI) , National Institutes of Health, Bethesda, Maryland, USA
                [3 ]Clinical Center PET Department (CC PET) , National Institutes of Health, Bethesda, Maryland, USA
                [4 ]Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD) , National Institutes of Health, Bethesda, Maryland, USA
                Author notes
                Correspondence should be addressed to J E Blau; Email: Jenny.blau@ 123456nih.gov
                © 2020 The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License..

                : 17 January 2020
                : 11 February 2020
                United States
                United Kingdom
                Hyperparathyroidism (Primary)
                Pancreatic cysts*
                PET scan
                CT scan
                Adrenal scintigraphy
                Calcium (serum)
                Phosphate (serum)
                Haemoglobin A1c
                Epinephrine (plasma)
                Metanephrines (plasma)
                Metanephrines (urinary)
                Adrenal function
                Chromogranin A
                DNA sequencing
                Polymerase Chain Reaction
                Molecular genetic analysis
                Radionuclide imaging
                Haematoxylin and eosin staining
                Cortisol, free (24-hour urine)
                Dexamethasone suppression
                Laparoscopic adrenalectomy
                Novel Diagnostic Procedure
                Novel Diagnostic Procedure

                adult,male,white,united states,united kingdom,adrenal,gastrin,metanephrines,normetanephrine,adrenaline,noradrenaline,cortisol,men1,phaeochromocytoma,hypercalcaemia,hyperparathyroidism (primary),lipoma*,pancreatic cysts*,pet scan,ct scan,adrenal scintigraphy,mri,calcium (serum),phosphate (serum),haemoglobin a1c,epinephrine (plasma),metanephrines (plasma),metanephrines (urinary),norepinephrine,adrenal function,chromogranin a,dna sequencing,polymerase chain reaction,molecular genetic analysis,histopathology,s100*,radionuclide imaging,haematoxylin and eosin staining,pth,cortisol, free (24-hour urine),dexamethasone suppression,adrenalectomy,laparoscopic adrenalectomy,parathyroidectomy,novel diagnostic procedure,march,2020


                Comment on this article