Skip to main content
Erschienen in: European Journal of Nuclear Medicine and Molecular Imaging 6/2015

01.05.2015 | Original Article

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

verfasst von: C. Lepoutre-Lussey, C. Caramella, F. Bidault, D. Déandreis, A. Berdelou, A. Al Ghuzlan, D. Hartl, I. Borget, A.-P. Gimenez-Roqueplo, F. Dumont, F. Deschamps, C. Nascimento, J. Lumbroso, M. Guillaud Bataille, M. Schlumberger, E. Baudin, S. Leboulleux

Erschienen in: European Journal of Nuclear Medicine and Molecular Imaging | Ausgabe 6/2015

Einloggen, um Zugang zu erhalten

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.
Literatur
1.
Zurück zum Zitat Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab. 2007;92(10):3822–8. doi:10.1210/jc.2007-0709.CrossRefPubMed Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab. 2007;92(10):3822–8. doi:10.​1210/​jc.​2007-0709.CrossRefPubMed
2.
Zurück zum Zitat Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, et al. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 2003;63(17):5615–21.PubMed Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, et al. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 2003;63(17):5615–21.PubMed
3.
Zurück zum Zitat Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab. 2006;91(3):827–36. doi:10.1210/jc.2005-1862.CrossRefPubMed Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab. 2006;91(3):827–36. doi:10.​1210/​jc.​2005-1862.CrossRefPubMed
6.
Zurück zum Zitat Timmers HJ, Kozupa A, Chen CC, Carrasquillo JA, Ling A, Eisenhofer G, et al. Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma. J Clin Oncol. 2007;25(16):2262–9. doi:10.1200/JCO.2006.09.6297.CrossRefPubMed Timmers HJ, Kozupa A, Chen CC, Carrasquillo JA, Ling A, Eisenhofer G, et al. Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma. J Clin Oncol. 2007;25(16):2262–9. doi:10.​1200/​JCO.​2006.​09.​6297.CrossRefPubMed
7.
Zurück zum Zitat King KS, Chen CC, Alexopoulos DK, Whatley MA, Reynolds JC, Patronas N, et al. Functional imaging of SDHx-related head and neck paragangliomas: comparison of 18F-fluorodihydroxyphenylalanine, 18F-fluorodopamine, 18F-fluoro-2-deoxy-D-glucose PET, 123I-metaiodobenzylguanidine scintigraphy, and 111In-pentetreotide scintigraphy. J Clin Endocrinol Metab. 2011;96(9):2779–85. doi:10.1210/jc.2011-0333.CrossRefPubMedCentralPubMed King KS, Chen CC, Alexopoulos DK, Whatley MA, Reynolds JC, Patronas N, et al. Functional imaging of SDHx-related head and neck paragangliomas: comparison of 18F-fluorodihydroxyphenylalanine, 18F-fluorodopamine, 18F-fluoro-2-deoxy-D-glucose PET, 123I-metaiodobenzylguanidine scintigraphy, and 111In-pentetreotide scintigraphy. J Clin Endocrinol Metab. 2011;96(9):2779–85. doi:10.​1210/​jc.​2011-0333.CrossRefPubMedCentralPubMed
8.
Zurück zum Zitat Treglia G, Cocciolillo F, de Waure C, Di Nardo F, Gualano MR, Castaldi P, et al. Diagnostic performance of 18F-dihydroxyphenylalanine positron emission tomography in patients with paraganglioma: a meta-analysis. Eur J Nucl Med Mol Imaging. 2012;39(7):1144–53. doi:10.1007/s00259-012-2087-y.CrossRefPubMed Treglia G, Cocciolillo F, de Waure C, Di Nardo F, Gualano MR, Castaldi P, et al. Diagnostic performance of 18F-dihydroxyphenylalanine positron emission tomography in patients with paraganglioma: a meta-analysis. Eur J Nucl Med Mol Imaging. 2012;39(7):1144–53. doi:10.​1007/​s00259-012-2087-y.CrossRefPubMed
9.
10.
Zurück zum Zitat Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(6):1915–42. doi:10.1210/jc.2014-1498.CrossRefPubMed Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(6):1915–42. doi:10.​1210/​jc.​2014-1498.CrossRefPubMed
11.
Zurück zum Zitat Taieb D, Timmers HJ, Hindie E, Guillet BA, Neumann HP, Walz MK, et al. EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging. 2012;39(12):1977–95. doi:10.1007/s00259-012-2215-8.CrossRefPubMed Taieb D, Timmers HJ, Hindie E, Guillet BA, Neumann HP, Walz MK, et al. EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging. 2012;39(12):1977–95. doi:10.​1007/​s00259-012-2215-8.CrossRefPubMed
12.
Zurück zum Zitat Gimenez-Roqueplo AP, Caumont-Prim A, Houzard C, Hignette C, Hernigou A, Halimi P, et al. Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. J Clin Endocrinol Metab. 2013;98(1):E162–73.CrossRefPubMed Gimenez-Roqueplo AP, Caumont-Prim A, Houzard C, Hignette C, Hernigou A, Halimi P, et al. Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. J Clin Endocrinol Metab. 2013;98(1):E162–73.CrossRefPubMed
13.
Zurück zum Zitat Plouin PF, Degoulet P, Tugaye A, Ducrocq MB, Menard J. Screening for phaeochromocytoma: in which hypertensive patients? A semiological study of 2585 patients, including 11 with phaeochromocytoma (author’s transl). Nouv Presse Med. 1981;10(11):869–72.PubMed Plouin PF, Degoulet P, Tugaye A, Ducrocq MB, Menard J. Screening for phaeochromocytoma: in which hypertensive patients? A semiological study of 2585 patients, including 11 with phaeochromocytoma (author’s transl). Nouv Presse Med. 1981;10(11):869–72.PubMed
14.
Zurück zum Zitat Kairisto V, Koskinen P, Mattila K, Puikkonen J, Virtanen A, Kantola I, et al. Reference intervals for 24-h urinary normetanephrine, metanephrine, and 3-methoxy-4-hydroxymandelic acid in hypertensive patients. Clin Chem. 1992;38(3):416–20.PubMed Kairisto V, Koskinen P, Mattila K, Puikkonen J, Virtanen A, Kantola I, et al. Reference intervals for 24-h urinary normetanephrine, metanephrine, and 3-methoxy-4-hydroxymandelic acid in hypertensive patients. Clin Chem. 1992;38(3):416–20.PubMed
16.
Zurück zum Zitat Kwekkeboom DJ, Bakker WH, Kam BL, Teunissen JJ, Kooij PP, de Herder WW, et al. Treatment of patients with gastro-entero-pancreatic (GEP) tumours with the novel radiolabelled somatostatin analogue [177Lu-DOTA(0),Tyr3]octreotate. Eur J Nucl Med Mol Imaging. 2003;30(3):417–22. doi:10.1007/s00259-002-1050-8.CrossRefPubMedCentralPubMed Kwekkeboom DJ, Bakker WH, Kam BL, Teunissen JJ, Kooij PP, de Herder WW, et al. Treatment of patients with gastro-entero-pancreatic (GEP) tumours with the novel radiolabelled somatostatin analogue [177Lu-DOTA(0),Tyr3]octreotate. Eur J Nucl Med Mol Imaging. 2003;30(3):417–22. doi:10.​1007/​s00259-002-1050-8.CrossRefPubMedCentralPubMed
17.
Zurück zum Zitat Timmers HJ, Chen CC, Carrasquillo JA, Whatley M, Ling A, Eisenhofer G, et al. Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography. J Natl Cancer Inst. 2012;104(9):700–8. doi:10.1093/jnci/djs188.CrossRefPubMedCentralPubMed Timmers HJ, Chen CC, Carrasquillo JA, Whatley M, Ling A, Eisenhofer G, et al. Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography. J Natl Cancer Inst. 2012;104(9):700–8. doi:10.​1093/​jnci/​djs188.CrossRefPubMedCentralPubMed
19.
Zurück zum Zitat Jasperson KW, Kohlmann W, Gammon A, Slack H, Buchmann L, Hunt J, et al. Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. Familial Cancer. 2014;13(2):257–65. doi:10.1007/s10689-013-9639-6.CrossRefPubMed Jasperson KW, Kohlmann W, Gammon A, Slack H, Buchmann L, Hunt J, et al. Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. Familial Cancer. 2014;13(2):257–65. doi:10.​1007/​s10689-013-9639-6.CrossRefPubMed
Metadaten
Titel
Screening in asymptomatic SDHx mutation carriers: added value of 18F-FDG PET/CT at initial diagnosis and 1-year follow-up
verfasst von
C. Lepoutre-Lussey
C. Caramella
F. Bidault
D. Déandreis
A. Berdelou
A. Al Ghuzlan
D. Hartl
I. Borget
A.-P. Gimenez-Roqueplo
F. Dumont
F. Deschamps
C. Nascimento
J. Lumbroso
M. Guillaud Bataille
M. Schlumberger
E. Baudin
S. Leboulleux
Publikationsdatum
01.05.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
European Journal of Nuclear Medicine and Molecular Imaging / Ausgabe 6/2015
Print ISSN: 1619-7070
Elektronische ISSN: 1619-7089
DOI
https://doi.org/10.1007/s00259-015-3003-z

Weitere Artikel der Ausgabe 6/2015

European Journal of Nuclear Medicine and Molecular Imaging 6/2015 Zur Ausgabe