SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

in Endocrine-Related Cancer
Authors:
Francesca Branzoli Paris Brain Institute - Institut du Cerveau (ICM), Center for Neuroimaging Research (CENIR), Paris, France
Sorbonne University, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France

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Betty Salgues Sorbonne University, nuclear medicine department, Pitié-Salpêtrière Hospital, Assistance -Publique Hôpitaux de Paris, Paris, France
Paris Cardiovascular Research Center (PARCC), Inserm, Paris, France

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https://orcid.org/0000-0002-0889-0226
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Małgorzata Marjańska Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, Minnesota, USA

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https://orcid.org/0000-0002-4727-2447
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Marie Laloi-Michelin Endocrinology department, Lariboisière Hospital, Assistance -Publique Hôpitaux de Paris, Paris, France

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Philippe Herman ENT unit, Lariboisière Hospital, Assistance -Publique Hôpitaux de Paris, Paris-Cité University, INSERM U1141, Paris, France

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Lauriane Le Collen Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, University of Lille, Lille, France
Department of Endocrinology Diabetology, University Hospital Center of Reims, Reims, France
Department of Genetic, University Hospital Center of Reims, Reims, France

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Brigitte Delemer Department of Endocrinology Diabetology, University Hospital Center of Reims, Reims, France
CRESTIC EA 3804, University of Reims Champagne Ardenne, UFR Sciences Exactes et Naturelles, Moulin de La Housse, BP 1039, Reims, France

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Julien Riancho AP-HP, Hôpital Européen Georges Pompidou, Hypertension Unit, and Reference centre for rare adrenal diseases, Paris, France

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Emmanuelle Kuhn Pituitary Unit, Pitié-Salpêtrière Hospital APHP, Sorbonne University, Paris, France

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Christel Jublanc Pituitary Unit, Pitié-Salpêtrière Hospital APHP, Sorbonne University, Paris, France

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Nelly Burnichon Département de médecine génomique des tumeurs et des cancers, AP-HP, Hôpital Européen Georges Pompidou, Paris, France
Université Paris Cité, Inserm, PARCC, Paris, France

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Laurence Amar AP-HP, Hôpital Européen Georges Pompidou, Hypertension Unit, and Reference centre for rare adrenal diseases, Paris, France
Université Paris Cité, Inserm, PARCC, Paris, France

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Judith Favier Université Paris Cité, Inserm, PARCC, Paris, France

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Anne-Paule Gimenez-Roqueplo Département de médecine génomique des tumeurs et des cancers, AP-HP, Hôpital Européen Georges Pompidou, Paris, France
Université Paris Cité, Inserm, PARCC, Paris, France

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Alexandre Buffet Département de médecine génomique des tumeurs et des cancers, AP-HP, Hôpital Européen Georges Pompidou, Paris, France
Université Paris Cité, Inserm, PARCC, Paris, France

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Charlotte Lussey-Lepoutre Sorbonne University, nuclear medicine department, Pitié-Salpêtrière Hospital, Assistance -Publique Hôpitaux de Paris, Paris, France
Paris Cardiovascular Research Center (PARCC), Inserm, Paris, France

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https://orcid.org/0000-0003-2228-0106

Correspondence should be addressed to C Lussey-Lepoutre: charlotte.lussey@inserm.fr

*(F Branzoli and B Salgues contributed equally to this work)

DOI:
https://doi.org/10.1530/ERC-22-0198
Volume/Issue:
Volume 30: Issue 2
Article Type:
Research Article
Article ID:
e220198
Online Publication Date:
05 Jan 2023
Copyright:
© the author(s) 2023
Restricted access
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Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequently involved in pheochromocytoma/paraganglioma (PPGL) development and were implicated in patients with the ‘3PAs’ syndrome (associating pituitary adenoma (PA) and PPGL) or isolated PA. However, the causality link between SDHx mutation and PA remains difficult to establish, and in vivo tools for detecting hallmarks of SDH deficiency are scarce. Proton magnetic resonance spectroscopy (1H-MRS) can detect succinate in vivo as a biomarker of SDHx mutations in PGL. The objective of this study was to demonstrate the causality link between PA and SDH deficiency in vivo using 1H-MRS as a novel noninvasive tool for succinate detection in PA. Three SDHx-mutated patients suffering from a PPGL and a macroprolactinoma and one patient with an apparently sporadic non-functioning pituitary macroadenoma underwent MRI examination at 3 T. An optimized 1H-MRS semi-LASER sequence (TR = 2500 ms, TE = 144 ms) was employed for the detection of succinate in vivo. Succinate and choline-containing compounds were identified in the MR spectra as single resonances at 2.44 and 3.2 ppm, respectively. Choline compounds were detected in all the tumors (three PGL and four PAs), while a succinate peak was only observed in the three macroprolactinomas and the three PGL of SDHx-mutated patients, demonstrating SDH deficiency in these tumors. In conclusion, the detection of succinate by 1H-MRS as a hallmark of SDH deficiency in vivo is feasible in PA, laying the groundwork for a better understanding of the biological link between SDHx mutations and the development of these tumors.

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Print ISSN:
1351-0088
Online ISSN:
1479-6821
Copyright:
© the author(s) 2023
Article ID:
e220198
Received Date:
22 Nov 2022
Accepted Date:
30 Nov 2022
Print Publication Date:
01 Feb 2023
Online Publication Date:
05 Jan 2023
Keywords:
pituitary adenoma; magnetic resonance spectroscopy; paraganglioma; succinate; succinate dehydrogenase

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