Correlation of the genotype of paragangliomas and pheochromocytomas with their metabolic phenotype on 3,4-dihydroxy-6-18F-fluoro-L-phenylalanin PET.

Abstract

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.

• Authors: H Christian Rischke, Matthias R Benz, Damian Wild, Michael Mix, Rebecca A Dumont, Dean Campbell, Jochen Seufert, Thorsten Wiech, Jochen Rössler, Wolfgang A Weber, Hartmut P H Neumann
• Journal: Journal of nuclear medicine : official publication, Society of Nuclear Medicine (J Nucl Med) Vol. 53 Issue 9 Pg. 1352-8 (Sep 2012) ISSN: 1535-5667 [Electronic] United States
• PMID: 22836345 (Publication Type: Journal Article)

Chemical References

• fluorodopa F 18
• Dihydroxyphenylalanine

Topics

• Adolescent
• Adrenal Gland Neoplasms (diagnostic imaging, genetics, metabolism, pathology)
• Adult
• Aged
• Aged, 80 and over
• Biological Transport
• Child
• Dihydroxyphenylalanine (analogs & derivatives, metabolism)
• Female
• Genotype
• Humans
• Male
• Middle Aged
• Mutation
• Paraganglioma (diagnostic imaging, genetics, metabolism, pathology)
• Phenotype
• Pheochromocytoma (diagnostic imaging, genetics, metabolism, pathology)
• Positron-Emission Tomography
• Retrospective Studies
• Tumor Burden
• Young Adult