A Corticotropin-Secreting Adenoma in the Setting of von Hippel-Lindau Disease.

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI:10.1210/jcemcr/luaf055
Xiaoxue Chen, Yue Zhou, Lin Lu, Ming Feng, Linjie Wang, Anli Tong
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Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by germline pathogenic variants of the VHL gene, which can lead to abnormal growth of blood vessels and cause the development of benign or malignant tumors, as well as cysts in diverse organs. To date, no case reports have documented adrenocorticotropic hormone (ACTH)-secreting adenomas in individuals with VHL disease. We present the case of a 19-year-old female individual with VHL disease who developed an ACTH-secreting adenoma alongside hemangioblastomas in the central nervous system (CNS) and cystic lesions in diverse organ systems. Genetic testing and immunohistochemistry of the pituitary tumor were performed. Genetic testing revealed that the patient carried the familial germline pathogenic variant located in the first exon of the VHL gene (c.227_229del, p.76delF). Immunohistochemical staining of the pituitary tumor demonstrated positive for ACTH, chromogranin A, and synaptophysin, with Ki-67 index at 3%. In addition, tumor cells showed scattered immunoreactivity for the α subunit of hypoxia-inducible factor (HIF-1α). This case suggests that VHL disease might be associated with ACTH-secreting adenomas and broadens the tumor spectrum.

希佩尔-林道病并发促肾上腺皮质激素分泌腺瘤。
Von Hippel-Lindau (VHL)病是由VHL基因的种系致病性变异引起的常染色体显性疾病,可导致血管异常生长,导致良性或恶性肿瘤的发展,以及多种器官的囊肿。到目前为止,没有病例报告记录了VHL疾病患者分泌促肾上腺皮质激素(ACTH)的腺瘤。我们报告了一例19岁女性VHL患者,她在中枢神经系统(CNS)发展为acth分泌腺瘤和血管母细胞瘤,并在多个器官系统中出现囊性病变。对垂体瘤进行基因检测和免疫组化。基因检测显示患者携带位于VHL基因第一外显子的家族性种系致病变异(c.227_229del, p.76delF)。垂体瘤免疫组化染色显示ACTH、嗜铬粒蛋白A、突触素阳性,Ki-67指数为3%。此外,肿瘤细胞对缺氧诱导因子(HIF-1α) α亚基表现出分散的免疫反应性。本病例提示VHL疾病可能与acth分泌腺瘤相关,拓宽了肿瘤谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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