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Screening in asymptomatic SDHx mutation carriers: added value of 18F-FDG PET/CT at initial diagnosis and 1-year follow-up

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Abstract

Purpose

Specific recommendations on screening modalities for paraganglioma (PGL) and phaeochromocytoma (PCC) in asymptomatic SDHx mutation carriers (relatives) are still lacking. We evaluated the added value of 18F-FDG PET/CT in comparison with morphological imaging at initial diagnosis and 1 year of follow-up in this population.

Methods

The study included 30 consecutive relatives with a proven SDHx mutation who were investigated by 18F-FDG PET/CT, gadolinium-enhanced magnetic resonance angiography of the head and neck, thoracic/abdominal/pelvic (TAP) contrast-enhanced CT and/or TAP MRI. 123I-MIBG scintigraphy was performed in 20 subjects and somatostatin receptor scintigraphy (SRS) in 20 subjects. The gold standard was based on pathology or a composite endpoint as defined by any other positive imaging method and persistent tumour on follow-up. Images were considered as false-positive when the lesions were not detected by another imaging method or not confirmed at 1 year.

Results

At initial work-up, an imaging abnormality was found in eight subjects (27 %). The final diagnosis was true-positive in five subjects (two with abdominal PGL, one with PCC and two with neck PGL) and false-positives in the other three subjects (detected with 18F-FDG PET/CT in two and TAP MRI in one). At 1 year, an imaging abnormality was found in three subjects of which one was an 8-mm carotid body PGL in a patient with SDHD mutaion and two were considered false-positive. The tumour detection rate was 100 % for 18F-FDG PET/CT and conventional imaging, 80 % for SRS and 60 % for 123I-MIBG scintigraphy. Overall, disease was detected in 4 % of the subjects at the 1-year follow-up.

Conclusion

18F-FDG PET/CT demonstrated excellent sensitivity but intermediate specificity justifying combined modality imaging in these patients. Given the slow progression of the disease, if 18F-FDG PET/CT and MRI are normal at baseline, the second imaging work-up should be delayed and an examination that does not expose the patient to radiation should be used.

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Acknowledgments

Seventeen patients were previously enrolled in the PGL.EVA study supported by Program Hospitalier National de Recherche Clinique 2004 (PCR05007).

Compliance with Ethical Standards

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Conflicts of Interest

None.

Research Involving Human Participants

For this type of retrospective study formal consent is not required.

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Authors and Affiliations

  1. Department of Nuclear Medicine and Endocrine Oncology, Gustave Roussy Institut, Université Paris-Sud, 114 rue Edouard Vaillant, 94805, Villejuif, France

    C. Lepoutre-Lussey, D. Déandreis, A. Berdelou, C. Nascimento, J. Lumbroso, M. Schlumberger, E. Baudin & S. Leboulleux

  2. Department of Radiology, Gustave Roussy Institut, Villejuif, France

    C. Caramella, F. Bidault & F. Deschamps

  3. Department of Medical Biology and Pathology, Gustave Roussy Institut, Villejuif, France

    A. Al Ghuzlan

  4. Department of Surgery, Gustave Roussy Institut, Villejuif, France

    D. Hartl & F. Dumont

  5. Department of Biostatistic and Epidemiology, Gustave Roussy Institut, Villejuif, France

    I. Borget

  6. Paris-Sud University, Villejuif, France

    I. Borget

  7. Department of Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France

    A.-P. Gimenez-Roqueplo

  8. Faculty of Medicine, Paris Descartes University, Paris, France

    A.-P. Gimenez-Roqueplo

  9. Department of Genetics, Gustave Roussy Institut, Villejuif, France

    M. Guillaud Bataille

Authors
  1. C. Lepoutre-Lussey
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  2. C. Caramella
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  3. F. Bidault
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  4. D. Déandreis
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  5. A. Berdelou
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  6. A. Al Ghuzlan
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  7. D. Hartl
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  8. I. Borget
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  9. A.-P. Gimenez-Roqueplo
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  10. F. Dumont
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  11. F. Deschamps
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  12. C. Nascimento
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  13. J. Lumbroso
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  14. M. Guillaud Bataille
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  15. M. Schlumberger
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  16. E. Baudin
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  17. S. Leboulleux
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Corresponding author

Correspondence to C. Lepoutre-Lussey.

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Lepoutre-Lussey, C., Caramella, C., Bidault, F. et al. Screening in asymptomatic SDHx mutation carriers: added value of 18F-FDG PET/CT at initial diagnosis and 1-year follow-up. Eur J Nucl Med Mol Imaging 42, 868–876 (2015). https://doi.org/10.1007/s00259-015-3003-z

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  • DOI: https://doi.org/10.1007/s00259-015-3003-z

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