Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin Bicêtre, France.
3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czechia.
Neuroendocrinology. 2020;110(9-10):809-821. doi: 10.1159/000506641. Epub 2020 Feb 20.
Pathologies involving the pituitary stalk (PS) are generally revealed by the presence of diabetes insipidus. The availability of MRI provides a major diagnostic contribution by enabling the visualization of the site of the culprit lesion, especially when it is small. However, when only an enlarged PS is found, the etiological workup may be difficult, particularly because the biopsy of the stalk is difficult, harmful and often not contributive. The pathological proof of the etiology thus needs to be obtained indirectly. The aim of this article was to provide an accurate review of the literature about PS enlargement in adults describing the differences between the numerous etiologies involved and consequent different diagnostic approaches. The etiological diagnostic procedure begins with the search for possible other lesions suggestive of histiocytosis, sarcoidosis, tuberculosis or other etiologies elsewhere in the body that could be more easily biopsied. We usually perform neck, thorax, abdomen, and pelvis CT scan; positron emission tomography scan; bone scan; or other imaging methods when we suspect generalized lesions. Measurement of serum markers such as human chorionic gonadotropin, alpha-fetoprotein, angiotensin converting enzyme, and IgG4 may also be helpful. Obviously, in the presence of an underlying carcinoma (particularly breast or bronchopulmonary), one must first consider a metastasis located in the PS. In the case of an isolated PS enlargement, simple monitoring, without histological proof, can be proposed (by repeating MRI at 3-6 months) with the hypothesis of a germinoma (particularly in a teenager or a young adult) that, by increasing in size, necessitates a biopsy. In contrast, a spontaneous diminution of the lesion is suggestive of infundibulo-neurohypophysitis. We prefer not to initiate steroid therapy to monitor the spontaneous course when a watch-and-see attitude is preferred. However, in many cases, the etiological diagnosis remains uncertain, requiring either close monitoring of the lesion or, in exceptional situations, trying to obtain definitive pathological evidence by a biopsy, which, unfortunately, is in most cases performed by the transcranial route. If a simple surveillance is chosen, it has to be very prolonged (annual surveillance). Indeed, progression of histiocytosis or germinoma may be delayed.
涉及垂体柄(PS)的病变通常通过存在尿崩症而被发现。MRI 的可用性通过使罪魁祸首病变部位的可视化做出了重大的诊断贡献,尤其是当病变很小的时候。然而,当仅发现 PS 增大时,病因学检查可能很困难,特别是因为对柄部进行活检既困难又有害,而且通常没有帮助。因此,需要间接获得病理学病因证明。本文的目的是对成人 PS 增大的文献进行准确回顾,描述了涉及的众多病因之间的差异,以及由此导致的不同诊断方法。病因诊断程序从寻找可能的其他提示组织细胞增多症、结节病、结核病或身体其他部位更容易活检的其他病因的病变开始。当我们怀疑存在广泛病变时,我们通常会进行颈部、胸部、腹部和骨盆 CT 扫描、正电子发射断层扫描、骨扫描或其他成像方法。测量血清标志物,如人绒毛膜促性腺激素、甲胎蛋白、血管紧张素转换酶和 IgG4,也可能有帮助。显然,在存在潜在癌(特别是乳腺癌或支气管肺)的情况下,必须首先考虑位于 PS 中的转移。在孤立性 PS 增大的情况下,可以提出没有组织学证据的简单监测(通过在 3-6 个月时重复 MRI),假设是生殖细胞瘤(特别是在青少年或年轻成人中),随着肿瘤的增大,需要进行活检。相反,病变的自发缩小提示漏斗神经垂体炎。当倾向于观察时,我们宁愿不开始类固醇治疗来监测自发病程。然而,在许多情况下,病因诊断仍然不确定,需要密切监测病变,或者在特殊情况下,试图通过活检获得明确的病理证据,不幸的是,在大多数情况下,这种活检是通过经颅途径进行的。如果选择简单的监测,那么监测必须非常长时间(每年监测)。实际上,组织细胞增多症或生殖细胞瘤的进展可能会延迟。