Fasshauer Mathias, Lincke Thomas, Witzigmann Helmut, Kluge Regine, Tannapfel Andrea, Moche Michael, Buchfelder Michael, Petersenn Stephan, Kratzsch Juergen, Paschke Ralf, Koch Christian A
Division of Endocrinology and Nephrology, University of Leipzig, Philipp-Rosenthalstr. 27, 04103 Leipzig, Germany.
BMC Cancer. 2006 Apr 27;6:108. doi: 10.1186/1471-2407-6-108.
ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed.
A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled (111)In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results.
This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide scan positive in atypical locations may benefit from explorative radioguided surgery using (111)In-pentetreotide and a gamma probe.
垂体或异位促肾上腺皮质激素（ACTH）分泌过多会导致皮质醇增多症。在此，我们报告首例由肠系膜异位分泌ACTH的神经内分泌癌引起的库欣综合征病例。此外，还展示并讨论了与异位分泌ACTH肿瘤相关的诊断程序和陷阱。
一名41岁男性患者出现提示异位库欣综合征的临床特征和生化检查结果。首先，患者接受了甲状腺次全切除术，但皮质醇增多症未缓解，因为奥曲肽扫描显示左甲状腺腺体内活性增强，超声检查发现双侧甲状腺叶有结节，其中一个为自主性结节。此外，患者垂体神经部有一个3毫米的低强化病变以及一个1厘米大小的肾上腺肿瘤。手术切除垂体后叶病变并未改善皮质醇增多症，我们继续用美替拉酮治疗患者以阻断皮质醇生成。自首次就诊起18个月的随访中，我们通过联合使用奥曲肽扫描、计算机断层扫描和正电子发射断层扫描检测到肠系膜有一个分泌ACTH的神经内分泌癌。术中，在给予放射性标记的（111）铟 - 喷替肽后使用γ探测器有助于识别肠系膜神经内分泌肿瘤。切除该癌后，患者临床症状改善。实验室检查证实皮质醇增多症缓解。术后7个月的奥曲肽扫描结果正常。
该病例强调了识别异位分泌ACTH肿瘤的诊断挑战以及细胞的多能性，在本病例中是肠系膜细胞能够开始产生和分泌ACTH。从而有助于阐明神经内分泌肿瘤的发病机制。该病例还表明，异位库欣综合征且奥曲肽扫描在非典型部位呈阳性的患者可能受益于使用（111）铟 - 喷替肽和γ探测器的探索性放射性导向手术。
