SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link? - Archive ouverte HAL
Article Dans Une Revue Endocrine-Related Cancer Année : 2023

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

Francesca Branzoli
  • Fonction : Auteur
Betty Salgues
Małgorzata Marjańska
Marie Laloi-Michelin
  • Fonction : Auteur
Philippe Herman
  • Fonction : Auteur
Lauriane Le Collen
  • Fonction : Auteur
Julien Riancho
Emmanuelle Kuhn
  • Fonction : Auteur
Christel Jublanc
  • Fonction : Auteur
Nelly Burnichon
  • Fonction : Auteur
Laurence Amar
  • Fonction : Auteur
Judith Favier
Anne-Paule Gimenez-Roqueplo
  • Fonction : Auteur
Alexandre Buffet
  • Fonction : Auteur
Charlotte Lussey-Lepoutre

Résumé

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 ( 1 H-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 1 H-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 1 H-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 1 H-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.

Dates et versions

hal-03961796 , version 1 (29-01-2023)

Identifiants

Citer

Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, Marie Laloi-Michelin, Philippe Herman, et al.. SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?. Endocrine-Related Cancer, 2023, 30 (2), pp.e220198. ⟨10.1530/ERC-22-0198⟩. ⟨hal-03961796⟩

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