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高分子量 ACTH 前体在导致严重异位库欣综合征的转移性胰腺神经内分泌肿瘤中的存在:一例报告。

High Molecular Weight ACTH-Precursor Presence in a Metastatic Pancreatic Neuroendocrine Tumor Causing Severe Ectopic Cushing's Syndrome: A Case Report.

机构信息

Neuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Pituitary Clinic, Endocrinology Division, Department of Medicine, Hospital Universitario "Dr. José E. González" UANL. Francisco I. Monterrey, Monterrey, Mexico.

出版信息

Front Endocrinol (Lausanne). 2020 Aug 13;11:557. doi: 10.3389/fendo.2020.00557. eCollection 2020.

Abstract

Ectopic ACTH-secretion causing Cushing's syndrome is unusual and its diagnosis is frequently challenging. The presence of high-molecular-weight precursors throughout pro-opiomelanocortin (POMC) translation by these tumors is often not reported. We present the case of a 49-year-old woman with a 3-month history of proximal muscular weakness, skin pigmentation, and weight loss. Upon initial evaluation, she had a full moon face, hirsutism, and a buffalo hump. Laboratory workup showed hyperglycemia, hypokalemia and metabolic alkalosis. ACTH, plasma cortisol, and urinary free cortisol levels were quite elevated. Serum cortisol levels were not suppressed on dexamethasone suppression testing. An octreo-SPECT scan showed enhanced nucleotide uptake in the liver and pancreas. Transendoscopic ultrasound-guided biopsy confirmed the diagnosis of a pancreatic ACTH-secreting neuroendocrine tumor (NET). Surgical excision of both pancreatic and liver lesions was carried out. Western blot analysis of the tumor and metastases revealed the presence of a high-molecular-weight precursor possibly POMC (at 30 kDa) but not ACTH (normally 4.5 kDa). ACTH-precursor secretion is more frequent in ectopic ACTH-secreting tumors compared with other causes of Cushing's syndrome. Hence, the measurement of such ACTH precursors warrants further evaluation, especially in the context of ACTH-dependent hypercortisolism.

摘要

异位 ACTH 分泌导致库欣综合征并不常见,其诊断常常具有挑战性。这些肿瘤在翻译过程中通常不会报告存在高相对分子质量的前体。我们报告了一例 49 岁女性,有 3 个月近端肌肉无力、皮肤色素沉着和体重减轻的病史。初次评估时,她有满月脸、多毛症和水牛背。实验室检查显示高血糖、低钾血症和代谢性碱中毒。ACTH、血浆皮质醇和尿游离皮质醇水平明显升高。地塞米松抑制试验显示血清皮质醇水平未被抑制。奥曲肽 SPECT 扫描显示肝脏和胰腺核苷酸摄取增强。经内镜超声引导下活检证实为胰腺 ACTH 分泌神经内分泌肿瘤(NET)。对胰腺和肝脏病变进行了手术切除。肿瘤和转移灶的 Western blot 分析显示存在高相对分子质量的前体,可能是 POMC(30 kDa)而不是 ACTH(正常为 4.5 kDa)。与库欣综合征的其他病因相比,异位 ACTH 分泌肿瘤中 ACTH 前体的分泌更为常见。因此,此类 ACTH 前体的测量值得进一步评估,特别是在 ACTH 依赖性皮质醇增多症的情况下。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4808/7438413/546cee0a8e76/fendo-11-00557-g0001.jpg

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