Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes
Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes
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DOI：
10.1016/j.humpath.2014.09.005
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发表时间：
2015-01-01
期刊：
影响因子：
3.3
通讯作者：
Stratakis, Constantine A.
中科院分区：
文献类型：
--
作者：
Carney, J. Aidan;Lyssikatos, Charalampos;Stratakis, Constantine A.
我们描述了5例生殖系PRKACA拷贝数增加和库欣综合征患者的病理学：4例男性和1例女性，年龄2至43岁，包括一对母子。影像学检查显示4例肾上腺正常或轻度增大，5例单侧肿块。生化方面，患者有促肾上腺皮质激素非依赖性皮质醇增多症。4例行双侧肾上腺切除术;肾上腺肿块患者行单侧肾上腺切除术。病理学上，3例患者，包括1例肿瘤（腺瘤），有原发性色素结节性肾上腺皮质疾病，伴有结节性皮质萎缩和轻度囊内和囊外皮质细胞延伸。另外2例患者有皮质增生和突出的囊和囊外小结节皮质增生。免疫过氧化物酶染色显示在萎缩皮质（患者1、2和3）和增生皮质（患者4和5）中突触体素、BABIN-A和Ki-67（细胞核）的差异，以及在2组患者的皮质外结节中Ki-67（细胞核）和波形蛋白的差异。β-连环蛋白染色的细胞膜，细胞质和细胞核的腺瘤。患者在随访（1-23年）时情况良好;单侧肾上腺切除术患者的24小时尿皮质醇排泄量升高。(C)2014 Elsevier Inc. All rights reserved.
We describe the pathology of 5 patients with germline PRKACA copy number gain and Cushing syndrome: 4 males and 1 female, aged 2 to 43 years, including a mother and son. Imaging showed normal or slightly enlarged adrenal glands in 4 patients and a unilateral mass in the fifth. Biochemically, the patients had corticotropin-independent hypercortisolism. Four underwent bilateral adrenalectomy; unilateral adrenaIectomy was performed in the patient with the adrenal mass. Pathologically, 3 patients, including the 1 with the tumor (adenoma), had primary pigmented nodular adrenocortical disease with extranodular cortical atrophy and mild intracapsular and extracapsular extension of cortical cells. The other 2 patients had cortical hyperplasia and prominent capsular and extracapsular micronodular cortical hyperplasia. Immunoperoxidase staining revealed differences for synaptophysin, inhibin-A, and Ki-67 (nuclei) in the atrophic cortices (patients 1, 2, and 3) and hyperplastic cortices (patients 4 and 5) and for Ki-67 (nuclei) and vimentin in the extracortical nodules in the 2 groups of patients. beta-Catenin stained the cell membrane, cytoplasm, and nuclei of the adenoma. The patients were well at follow-up (1-23 years); 24-hour urinary cortisol excretion was elevated in the patient who had unilateral adrenalectomy. (C) 2014 Elsevier Inc. All rights reserved.