CLINICAL AND GENETIC FEATURES OF ADRENOCORTICAL LESIONS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
CLINICAL AND GENETIC FEATURES OF ADRENOCORTICAL LESIONS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
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DOI：
10.1210/jc.75.1.76
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发表时间：
1992-07-01
影响因子：
5.8
通讯作者：
OBERG, K
中科院分区：
文献类型：
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作者：
SKOGSEID, B;LARSSON, C;OBERG, K
在1型多发性内分泌瘤（men1）中，约三分之一的尸检病例发现肾上腺皮质良性肿大。为了阐明men1型肾上腺病变的临床和遗传学特征，我们调查了33例men1型肾上腺病变患者。12例（37%）表现为肾上腺肿大，其中7例为双侧。组织病理学显示弥漫性和结节性皮质增生、腺瘤和1例肾上腺皮质癌。明显的良性肾上腺肿大与目前确定的下丘脑-垂体-肾上腺皮质轴的生化紊乱无关，并且在随访期间没有放射学进展迹象。发展为单侧肾上腺皮质癌的个体，在对双侧轻微肾上腺肿大进行4年观察后，表现为肾上腺迅速扩张、女性化和尿类固醇异常。胰腺内分泌肿瘤在所有累及肾上腺的man -1个体中均有显著的过度代表和存在。与散发性病例的发现一致，MEN-1肾上腺皮质癌基因组显示17p、13q、11p和11q等位基因的结构杂合性缺失。良性肾上腺病变在11q13染色体上保留了man -1位点的杂合性。尽管它的普遍性和恶性潜能，垂体不依赖型肾上腺皮质增生似乎不是men1的原发病变，但可能是一种继发现象，可能与胰腺内分泌肿瘤有关。
In multiple endocrine neoplasia type 1 (MEN-1), benign enlargement of the adrenal cortex has been found in about one third of necropsy cases. To elucidate the clinical and genetic characteristics of the MEN-1 adrenal lesion, we have investigated 33 MEN-1 patients. Twelve individuals (37%) demonstrated adrenal enlargement, which was bilateral in 7 of them. Histopathology revealed diffuse and nodular cortical hyperplasia, adenomas, and a single case of adrenocortical carcinoma. The apparently benign adrenal enlargements were not associated with presently ascertainable biochemical disturbances in the hypothalamic-pituitary-adrenocortical axis, and they were without radiological signs of progression during follow-up. The individual developing unilateral adrenocortical carcinoma showed rapid adrenal expansion, feminization, and an abnormal urinary steroid profile after 4 yr of observation for bilateral minor adrenal enlargements. Pancreatic endocrine tumors were significantly overrepresented and present in all MEN-1 individuals with adrenal involvement. In agreement with findings in sporadic cases, the MEN-1 adrenocortical carcinoma genome showed loss of constitutional heterozygosity for alleles at 17p, 13q, 11p, and 11q. The benign adrenal lesions retained heterozygosity for the MEN-1 locus at chromosome 11 q 13. Despite its prevalence and malignant potential, the pituitary-independent adrenocortical proliferation does not appear to be a primary lesion in MEN-1, but might represent a secondary phenomenon, perhaps related to the pancreatic endocrine tumor.