High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET (original) (raw)

Abstract

Purpose

Knowledge of the genetic backgrounds of hereditary syndromes, which are increasingly being characterized, enables genetic screening of family members of affected patients. Upon detection of a mutation, genetic counselling and clinical screening including imaging modalities and biochemical analyses are commonly performed.

Methods

Unaffected, mutation-positive relatives of index patients with hereditary paraganglioma syndromes were offered PET imaging with [18F]fluorodihydroxyphenylalanine and the incidence of pathological findings was retrospectively analysed in relation to mutations of the succinate dehydrogenase enzyme complex. PET only or PET/CT was performed in 21 individuals from eight families with SDHD, one family with SDHC and two families with SDHB mutations. Screening was offered every 2 to 5 years.

Results

Of the 21 individuals, 14 showed paraganglioma during screening. In particular, in only 2 of 15 patients with a SDHD mutation were the findings completely unremarkable on PET screening. However, false-negative lesions for abdominal manifestations in two SDHD-positive patients were detected.

Conclusion

FDOPA PET is a sensitive imaging modality which should be offered to patients with a detected SDHx (SDHD) mutation, preferably using a hybrid technique.

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Authors and Affiliations

1. Department of Nuclear Medicine, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany
   Matthias Miederer, Andreas Helisch & Mathias Schreckenberger
2. Department of Internal Medicine I, Division of Endocrinology and Metabolism, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany
   Christian Fottner & Matthias M. Weber
3. Institute for Clinical Chemistry, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany
   Heidi Rossmann & Karl J. Lackner
4. Department of Otorhinolaryngology–Head and Neck Surgery, University Medical Centre of the Johannes Gutenberg, University Mainz, Mainz, Germany
   Konstantinos Papaspyrou & Wolf J. Mann
5. Institute for Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany
   Oliver Bartsch
6. Department of Surgery, Endocrine Surgery, University Medical Centre of the Johannes, Gutenberg University Mainz, Mainz, Germany
   Thomas J. Musholt

Authors

1. Matthias Miederer
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2. Christian Fottner
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3. Heidi Rossmann
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4. Andreas Helisch
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5. Konstantinos Papaspyrou
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6. Oliver Bartsch
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7. Wolf J. Mann
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8. Thomas J. Musholt
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9. Matthias M. Weber
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10. Karl J. Lackner
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11. Mathias Schreckenberger
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Correspondence toMatthias Miederer.

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Miederer, M., Fottner, C., Rossmann, H. et al. High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET.Eur J Nucl Med Mol Imaging 40, 889–896 (2013). https://doi.org/10.1007/s00259-013-2346-6

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• Received: 11 October 2012
• Accepted: 07 January 2013
• Published: 02 February 2013
• Issue Date: June 2013
• DOI: https://doi.org/10.1007/s00259-013-2346-6

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