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

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Abstract

Summary

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.

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Most cited references 34

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

David Taïeb, Rodney Hicks, Elif Hindié … (2019)

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.

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

Mark Crabtree, Dominique Lorang, Steven Libutti … (2001)

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.

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Multiple endocrine neoplasia type 1 (MEN1).

Rajesh Thakker (2010)

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.

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Author and article information

Journal

Journal ID (nlm-ta): Endocrinol Diabetes Metab Case Rep

Journal ID (iso-abbrev): Endocrinol Diabetes Metab Case Rep

Journal ID (hwp): EDM

Title: Endocrinology, Diabetes & Metabolism Case Reports

Publisher: Bioscientifica Ltd (Bristol )

ISSN (Electronic): 2052-0573

Publication date (Electronic): 03 March 2020

Publication date Collection: 2020

Volume: 2020

Electronic Location Identifier: 19-0156

Affiliations

[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

Article

Publisher ID: EDM190156

DOI: 10.1530/EDM-19-0156

PMC ID: 7077596

PubMed ID: 32130200

SO-VID: 64d4cca8-329e-405a-82ad-54845c83cde5

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

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