Murvelashvili Natia, Polanco Patricio M, Khorsand Sarah M, Marrero Jorge A, Jia Liwei, Mirfakhraee Sasan, Else Tobias, Habra Mouhammed Amir, Cole Suzanne, Hamidi Oksana
Division of Endocrinology and Metabolism, UT Southwestern Medical Center, Dallas, Texas 75390, USA.
Division of Surgical Oncology, UT Southwestern Medical Center, Dallas, Texas 75390, USA.
J Endocr Soc. 2022 Jun 29;6(8):bvac101. doi: 10.1210/jendso/bvac101. eCollection 2022 Aug 1.
Adrenocortical carcinoma (ACC) is a rare malignancy arising from the adrenal cortex. While ACC can be associated with adrenal hormone excess syndromes, classic paraneoplastic syndromes are rarely seen. Stauffer syndrome, a paraneoplastic phenomenon characterized by reversible cholestasis in the absence of liver metastases, has been described with renal carcinoma and other malignancies but has not been previously reported in ACC.
A 38-year-old man presented with emesis, painless jaundice, pruritus, and weight loss. Laboratory evaluation demonstrated elevated total bilirubin of 8.7 mg/dL (N < 1.3 mg/dL). Computed tomography revealed a 20.4-cm left adrenal mass without evidence of liver metastases. The patient's condition deteriorated rapidly with progressive renal failure and worsening hyperbilirubinemia. The patient underwent left adrenalectomy, nephrectomy, ureterolysis, and wedge liver biopsy. Histopathology showed necrotic ACC with tumor invasion into the adrenal capsule, no lymphovascular invasion, uninvolved margins, and Ki-67 of 40%. Kidney parenchyma exhibited diffuse pigment casts. The liver specimen contained diffuse bile deposits and minimal chronic inflammation in the portal tracts. He tested positive for the pathogenic variant of () gene consistent with Birt-Hogg-Dube syndrome. Renal function recovered after surgery, and bilirubin level normalized after several weeks. Based on clinical presentation and absence of other etiologies, reversible cholestatic jaundice was attributed to Stauffer syndrome.
This is the first report of a unique presentation of paraneoplastic-related hyperbilirubinemia in the setting of ACC. While extremely rare, Stauffer syndrome should still be considered in differential diagnosis in patients with ACC with liver dysfunction and jaundice without evidence of liver metastases.
肾上腺皮质癌（ACC）是一种起源于肾上腺皮质的罕见恶性肿瘤。虽然ACC可与肾上腺激素过多综合征相关，但经典的副肿瘤综合征却很少见。斯陶费尔综合征是一种副肿瘤现象，其特征为在无肝转移的情况下出现可逆性胆汁淤积，已在肾癌和其他恶性肿瘤中有所描述，但此前尚未在ACC中报道过。
一名38岁男性出现呕吐、无痛性黄疸、瘙痒和体重减轻。实验室检查显示总胆红素升高至8.7mg/dL（正常范围<1.3mg/dL）。计算机断层扫描显示左肾上腺有一个20.4cm的肿块，无肝转移迹象。患者病情迅速恶化，出现进行性肾衰竭和黄疸加重。患者接受了左肾上腺切除术、肾切除术、输尿管松解术和肝楔形活检。组织病理学显示坏死性ACC，肿瘤侵犯肾上腺包膜，无脉管侵犯，切缘未见肿瘤累及，Ki-67为40%。肾实质可见弥漫性色素管型。肝脏标本含有弥漫性胆汁淤积，门管区有轻度慢性炎症。他检测到与Birt-Hogg-Dube综合征一致的（）基因的致病变异呈阳性。术后肾功能恢复，几周后胆红素水平恢复正常。根据临床表现及排除其他病因，可逆性胆汁淤积性黄疸归因于斯陶费尔综合征。
这是首例关于ACC患者出现副肿瘤相关高胆红素血症独特表现的报告。虽然极为罕见，但在诊断无肝转移证据但伴有肝功能障碍和黄疸的ACC患者时，仍应考虑斯陶费尔综合征。
