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The value of a rapid contrast-enhanced angio-MRI protocol in the detection of head and neck paragangliomas in SDHx mutations carriers: a retrospective study on behalf of the PGL.EVA investigators*

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Abstract

Objectives

To assess the performance of a simplified MRI protocol consisting of a contrast-enhanced three-dimensional MR angiography (CE-MRA) in association with a post-contrast T1-weighted sequence (T1WIV) for the detection of HNPGLs in SDHx mutation carriers.

Methods

This retrospective sub-study is based on the multicenter PGL.EVA cohort, which prospectively enrolled SDHx mutation carriers from 2005 to 2009; 157 index cases or relatives were included. CE-MRA and the T1WIV images were read solely with knowledge of the clinical data but blind to the diagnosis. Sensitivity, specificity and likelihood ratios for the simplified MRI protocol were compared to the full MRI protocol reading results and to the gold standard status obtained through the consensus of an expert committee.

Results

The sensitivity and specificity of the readings of the simplified MRI protocol were, respectively, 88.7 % (95 % CI = 78.1–95.3) and 93.7 % (95 % CI = 86.8–97.7) versus 80.7 % (95 % CI = 68.6–89.6) and 94.7 % (95 % CI = 88.1–98.3) for the readings of the full MRI protocol.

Conclusions

The simplified post-contrast MRI with shorter duration (5 to 10 minutes) showed no performance difference compared to the lengthy standard full MRI and can be proposed for the detection of head and neck paragangliomas (HNPGLs) in SDHx mutation carriers.

Key Points

Rapid angio-MRI protocol and the usual lengthy protocol show equal diagnostic performance.

The CE-MRA is the key sequence for the detection of HNPGLs.

The T1WIV sequence assists in localizing HNPGLs.

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Abbreviations

HNPGL:

Head and neck paraganglioma

CE-MRA:

Contrast-enhanced three-dimensional MR angiography

T1WIV:

Post-contrast T1-weighted sequence

References

  1. Mariman EC, van Beersum SE, Cremers CW et al (1993) Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Hum Genet 91:357–361

    Article  CAS  PubMed  Google Scholar 

  2. Lack EE, Cubilla AL, Woodruff JM, Farr HW (1977) Paragangliomas of the head and neck region. A clinical study of 69 patients. Cancer 39:397–409

    Article  CAS  PubMed  Google Scholar 

  3. Castelblanco E, Gallel P, Ros S et al (2012) Thyroid paraganglioma. Report of 3 cases and description of an immunohistochemical profile useful in the differential diagnosis with medullary thyroid carcinoma, based on complementary DNA array results. Hum Pathol 43:1103–1112

    Article  CAS  PubMed  Google Scholar 

  4. Alkadhi H, Schuknecht B, Stoeckli SJ, Valavanis A (2002) Evaluation of topography and vascularization of cervical paragangliomas by magnetic resonance imaging and color duplex sonography. Neuroradiology 44:83–90

    Article  CAS  PubMed  Google Scholar 

  5. Olsen WL, Dillon WP, Kelly WM et al (1987) MR imaging of paragangliomas. AJR Am J Roentgenol 148:201–204

    Article  CAS  PubMed  Google Scholar 

  6. van Gils AP, van den Berg R, Falke TH et al (1994) MR diagnosis of paraganglioma of the head and neck: value of contrast enhancement. AJR Am J Roentgenol 162:147–153

    Article  PubMed  Google Scholar 

  7. Barber B, Ingram M, Khan S et al (2011) Clinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation. Insights Imaging 2:431–438

    Article  PubMed  PubMed Central  Google Scholar 

  8. Gimenez-Roqueplo A-P, Caumont-Prim A, Houzard C et al (2013) 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 98:E162–E173

    Article  CAS  PubMed  Google Scholar 

  9. Baysal BE, Willett-Brozick JE, Lawrence EC et al (2002) Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 39:178–183

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Boedeker CC, Neumann HPH, Maier W et al (2007) Malignant head and neck paragangliomas in SDHB mutation carriers. Off J Am Acad Otolaryngol-Head Neck Surg 137:126–129

    Article  Google Scholar 

  11. Drovdlic CM, Myers EN, Peters JA et al (2001) Proportion of heritable paraganglioma cases and associated clinical characteristics. Laryngoscope 111:1822–1827

    Article  CAS  PubMed  Google Scholar 

  12. Badenhop RF, Jansen JC, Fagan PA et al (2004) The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. J Med Genet 41:e99

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Favier J, Amar L, Gimenez-Roqueplo A-P (2014) Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol. doi:10.1038/nrendo.2014.188

    PubMed  Google Scholar 

  14. Favier J, Gimenez-Roqueplo A-P (2010) Pheochromocytomas: the (pseudo)-hypoxia hypothesis. Best Pract Res Clin Endocrinol Metab 24:957–968

    Article  CAS  PubMed  Google Scholar 

  15. Burnichon N, Rohmer V, Amar L et al (2009) The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 94:2817–2827

    Article  CAS  PubMed  Google Scholar 

  16. Neumann HPH, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA J Am Med Assoc 292:943–951

    Article  CAS  Google Scholar 

  17. Timmers HJLM, Kozupa A, Eisenhofer G et al (2007) Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 92:779–786

    Article  CAS  PubMed  Google Scholar 

  18. Brewis C, Bottrill ID, Wharton SB, Moffat DA (2000) Metastases from glomus jugulare tumours. J Laryngol Otol 114:17–23

    CAS  PubMed  Google Scholar 

  19. Lenders JWM, Duh Q-Y, Eisenhofer G et al (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 99:1915–1942

    Article  CAS  PubMed  Google Scholar 

  20. Martin TPC, Irving RM, Maher ER (2007) The genetics of paragangliomas: a review. Clin Otolaryngol Off J ENT-UK Off J Neth Soc Oto-Rhino-Laryngol Cervico-Facial Surg 32:7–11

    Article  CAS  Google Scholar 

  21. Makeieff M, Raingeard I, Alric P et al (2008) Surgical management of carotid body tumors. Ann Surg Oncol 15:2180–2186

    Article  CAS  PubMed  Google Scholar 

  22. Paris J, Facon F, Thomassin JM, Zanaret M (2006) Cervical paragangliomas: neurovascular surgical risk and therapeutic management. Eur Arch Oto-Rhino-Laryngol Off J Eur Fed Oto-Rhino-Laryngol Soc EUFOS Affil Ger Soc Oto-Rhino-Laryngol - Head Neck Surg 263:860–865

    CAS  Google Scholar 

  23. Huy PTB, Kania R, Duet M et al (2009) Evolving concepts in the management of jugular paraganglioma: a comparison of radiotherapy and surgery in 88 cases. Skull Base Off J North Am Skull Base Soc Al 19:83–91

    Google Scholar 

  24. Dupin C, Lang P, Dessard-Diana B et al (2014) Treatment of head and neck paragangliomas with external beam radiation therapy. Int J Radiat Oncol Biol Phys 89:353–359

    Article  PubMed  Google Scholar 

  25. Jansen JC, van den Berg R, Kuiper A et al (2000) Estimation of growth rate in patients with head and neck paragangliomas influences the treatment proposal. Cancer 88:2811–2816

    Article  CAS  PubMed  Google Scholar 

  26. Vogl T, Brüning R, Schedel H et al (1989) Paragangliomas of the jugular bulb and carotid body: MR imaging with short sequences and Gd-DTPA enhancement. AJR Am J Roentgenol 153:583–587

    Article  CAS  PubMed  Google Scholar 

  27. Timmers HJLM, Chen CC, Carrasquillo JA et al (2012) Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography. J Natl Cancer Inst 104:700–708

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Neves F, Huwart L, Jourdan G et al (2008) Head and neck paragangliomas: value of contrast-enhanced 3D MR angiography. AJNR Am J Neuroradiol 29:883–889

    Article  CAS  PubMed  Google Scholar 

  29. van den Berg R, Schepers A, de Bruïne FT et al (2004) The value of MR angiography techniques in the detection of head and neck paragangliomas. Eur J Radiol 52:240–245

    Article  PubMed  Google Scholar 

  30. Jasperson KW, Kohlmann W, Gammon A et al (2014) Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. Fam Cancer 13:257–265

    Article  CAS  PubMed  Google Scholar 

  31. Hoegerle S, Ghanem N, Altehoefer C et al (2003) 18F-DOPA positron emission tomography for the detection of glomus tumours. Eur J Nucl Med Mol Imaging 30:689–694

    Article  CAS  PubMed  Google Scholar 

  32. King KS, Chen CC, Alexopoulos DK et al (2011) 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 96:2779–2785

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgments

Authors would like to thank Steven M. Yevich for editing the English text. The scientific guarantor of this publication is Prof. Philippe Halimi. The authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article. This study has received funding by Program Hospitalier National de Recherche Clinique 2004 (PCR05007).

One of the authors has significant statistical expertise: Aurore Caumont-Prim from Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Unité d’Épidémiologie et de Recherche Clinique, F-75015 Paris, France. Institutional Review Board approval was obtained. Written informed consent was obtained from all subjects (patients) in this study. Some study subjects or cohorts have been previously reported in: Gimenez-Roqueplo A-P, Caumont-Prim A, Houzard C, et al. (2013) 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 98:E162–173. Methodology: retrospective, diagnostic study, multicenter study.

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Correspondence to Anne-Paule Gimenez-Roqueplo.

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Anne-Paule Gimenez-Roqueplo and Philippe Halimi jointly directed this work.

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Gravel, G., Niccoli, P., Rohmer, V. et al. The value of a rapid contrast-enhanced angio-MRI protocol in the detection of head and neck paragangliomas in SDHx mutations carriers: a retrospective study on behalf of the PGL.EVA investigators*. Eur Radiol 26, 1696–1704 (2016). https://doi.org/10.1007/s00330-015-4024-5

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