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

IF 4.1 2区 医学 Q2 ENDOCRINOLOGY & METABOLISM Endocrine-related cancer Pub Date : 2023-02-01 DOI:10.1530/ERC-22-0198
Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, Marie Laloi-Michelin, Philippe Herman, Lauriane Le Collen, Brigitte Delemer, Julien Riancho, Emmanuelle Kuhn, Christel Jublanc, Nelly Burnichon, Laurence Amar, Judith Favier, Anne-Paule Gimenez-Roqueplo, Alexandre Buffet, Charlotte Lussey-Lepoutre
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引用次数: 1

Abstract

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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SDHx突变与垂体腺瘤:体内1H-MR能揭示其中的联系吗?
琥珀酸脱氢酶(SDH)编码基因的种系突变经常参与嗜铬细胞瘤/副神经节瘤(PPGL)的发展,并与“3PAs”综合征(相关垂体腺瘤(PA)和PPGL)或孤立性PA患者有关。然而,SDH突变和PA之间的因果关系仍然难以确定,体内检测SDH缺乏标志的工具也很少。质子磁共振波谱(1H-MRS)可以检测体内琥珀酸盐作为PGL中SDHx突变的生物标志物。本研究的目的是利用1H-MRS作为一种新的无创检测PA中琥珀酸盐的工具,证明体内PA和SDH缺乏之间的因果关系。3例伴有PPGL和巨泌乳素瘤的sdhx突变患者和1例明显散发的无功能垂体大腺瘤患者在3 t时接受MRI检查,采用优化的1H-MRS半激光序列(TR = 2500 ms, TE = 144 ms)检测体内琥珀酸盐。含琥珀酸盐和胆碱的化合物分别在2.44和3.2 ppm的MR光谱中被鉴定为单共振。在所有肿瘤(3个PGL和4个PAs)中均检测到胆碱化合物,而琥珀酸盐峰仅在3个巨泌乳素瘤和sdx突变患者的3个PGL中观察到,表明这些肿瘤中SDH缺乏。综上所述,用1H-MRS检测琥珀酸盐作为体内SDH缺乏的标志在PA中是可行的,为更好地理解sdx突变与这些肿瘤发展之间的生物学联系奠定了基础。
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来源期刊
Endocrine-related cancer
Endocrine-related cancer 医学-内分泌学与代谢
CiteScore
7.80
自引率
2.60%
发文量
138
审稿时长
6-12 weeks
期刊介绍: Endocrine-Related Cancer is an official flagship journal of the Society for Endocrinology and is endorsed by the European Society of Endocrinology, the United Kingdom and Ireland Neuroendocrine Society, and the Japanese Hormones and Cancer Society. Endocrine-Related Cancer provides a unique international forum for the publication of high quality original articles describing novel, cutting edge basic laboratory, translational and clinical investigations of human health and disease focusing on endocrine neoplasias and hormone-dependent cancers; and for the publication of authoritative review articles in these topics. Endocrine neoplasias include adrenal cortex, breast, multiple endocrine neoplasia, neuroendocrine tumours, ovary, prostate, paraganglioma, parathyroid, pheochromocytoma pituitary, testes, thyroid and hormone-dependent cancers. Neoplasias affecting metabolism and energy production such as bladder, bone, kidney, lung, and head and neck, are also considered.
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