Green Deirdre, Richards Kate, Doyle Brendan, Thompson Chris, Hill Arnold, O'Reilly Michael W, Sherlock Mark
Department of Endocrinology, Beaumont Hospital, Dublin, Ireland.
Academic Department of Endocrinology, Royal College of Surgeons in Ireland, Dublin, Ireland.
Endocrinol Diabetes Metab Case Rep. 2024 Nov 25;2024(4). doi: 10.1530/EDM-23-0068. Print 2024 Oct 1.
Adrenocortical carcinoma (ACC) is a rare malignant tumour arising from the adrenal cortex, with an estimated annual incidence of one to two patients per million. Ectopic ACCs are extremely rare. The majority of ACCs are sporadic; however, ACC has been linked with genetic disease processes, including multiple endocrine neoplasia type-1 (MEN-1). We present the case of a 66-year-old lady referred with newly diagnosed diabetes on a background of primary hyperparathyroidism. Examination revealed Cushingoid features, and hormonal evaluation confirmed ACTH-independent Cushing's syndrome. Morning cortisol after a 1 mg overnight dexamethasone suppression test was 548 nmol/L with an undetectable ACTH <3.0 pg/mL. Dehydroepiandrosterone sulphate was 5.3 μmol/L and androstenedione 3.49 nmol/L, both of which were normal. Testosterone was suppressed at <0.4 nmol/L. Imaging revealed a 6 × 6 × 4.5 cm right-sided presumed adrenal lesion, a pancreatic lesion (2.5 × 1.6 cm), and bilateral pulmonary nodules (0.9 × 0.8 cm, 0.7 × 0.6 cm, 0.3 cm). Right adrenalectomy was performed, and histology was consistent with an extra-adrenal ACC (Weiss score 5/9) within the peri-adrenal adipose tissue. The resected adrenal gland was normal. Lung biopsy confirmed metastatic ACC tissue, and endoscopic ultrasound-guided biopsy of the pancreatic lesion revealed a pancreatic neuroendocrine tumour, which was confirmed biochemically to be an insulinoma. Genetic assessment confirmed MEN-1. This case highlights the importance of screening for MEN-1 in at-risk patients and the need for close clinical follow-up. To our knowledge, this is the first case report of extra-adrenal ACC in MEN-1 syndrome.
Adrenal lesions in MEN-1 syndrome have significant malignant potential. Newly diagnosed lesions should be followed closely with short-interval imaging, and a lower threshold for surgical removal is suggested. Primary hyperparathyroidism is often the earliest laboratory or clinical manifestation of MEN-1 syndrome. A detailed medical and family history is vital in order to appropriately identify patients at risk of MEN-1. To our knowledge, this is the first case report of extra-adrenal adrenocortical carcinoma in MEN-1 syndrome.
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，估计年发病率为每百万人口中有1至2例患者。异位肾上腺皮质癌极为罕见。大多数肾上腺皮质癌是散发性的；然而，肾上腺皮质癌与遗传疾病过程有关，包括1型多发性内分泌肿瘤（MEN - 1）。我们报告一例66岁女性患者，因原发性甲状旁腺功能亢进症背景下新诊断的糖尿病前来就诊。检查发现有库欣样特征，激素评估证实为促肾上腺皮质激素非依赖性库欣综合征。1毫克过夜地塞米松抑制试验后晨皮质醇为548 nmol/L，促肾上腺皮质激素<3.0 pg/mL未检测到。硫酸脱氢表雄酮为5.3 μmol/L，雄烯二酮为3.49 nmol/L，两者均正常。睾酮被抑制至<0.4 nmol/L。影像学检查发现右侧有一个6×6×4.5厘米的疑似肾上腺病变、一个胰腺病变（2.5×1.6厘米）以及双侧肺结节（0.9×0.8厘米、0.7×0.6厘米、0.3厘米）。进行了右侧肾上腺切除术，组织学检查结果与肾上腺周围脂肪组织内的肾上腺外肾上腺皮质癌（Weiss评分5/9）一致。切除的肾上腺正常。肺活检证实为转移性肾上腺皮质癌组织，胰腺病变的内镜超声引导活检显示为胰腺神经内分泌肿瘤，生化检查证实为胰岛素瘤。基因评估确诊为MEN - 1。该病例强调了对高危患者筛查MEN - 1的重要性以及密切临床随访的必要性。据我们所知，这是MEN - 1综合征中肾上腺外肾上腺皮质癌的首例病例报告。
MEN - 1综合征中的肾上腺病变具有显著的恶性潜能。新诊断的病变应通过短间隔影像学检查密切随访，并建议降低手术切除阈值。原发性甲状旁腺功能亢进症通常是MEN - 1综合征最早的实验室或临床表现。详细的病史和家族史对于准确识别有MEN - 1风险的患者至关重要。据我们所知，这是MEN - 1综合征中肾上腺外肾上腺皮质癌的首例病例报告。
