肾上腺皮质肿瘤：表皮生长因子受体基因状态相关的临床病理特征研究。

Adrenal cortical neoplasms: a study of clinicopathological features related to epidermal growth factor receptor gene status.

机构信息

Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuai Fu Yuan Hu Tong, Beijing 100730, People's Republic of China.

出版信息

Diagn Pathol. 2014 Jan 23;9:19. doi: 10.1186/1746-1596-9-19.

DOI:10.1186/1746-1596-9-19

PMID:24457059

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3976095/

Abstract

BACKGROUND

Adrenocortical carcinoma (ACC) is a rare but highly malignant neoplasm with limited treatment options.

METHODS

In this study, the clinicopathological features of 22 ACCs and 22 adrenocortical adenomas (ACA) were analyzed, and the EGFR protein expression, EGFR gene mutation status and EGFR gene copy number alteration of all tumors were examined using immunohistochemistry, fluorescence in situ hybridization (FISH), and the Scorpion Amplification Refractory Mutation System (ARMS), respectively.

RESULTS

EGFR protein expression was detected in 63.6% of the ACC samples, and EGFR FISH was positive in 50% of the ACC samples (all were high polysomy on chromosome 7). In contrast, 27.3% of the ACA samples demonstrated EGFR expression, and none of the ACA samples tested positive by FISH. There were significant differences between the ACC and ACA in terms of protein expression (P = 0.035) and gene copy number alterations (P < 0.001).

CONCLUSIONS

EGFR protein expression and high polysomy on chromosome 7 are frequent abnormalities in ACC than in ACA.

VIRTUAL SLIDES

The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2068470757103500.

摘要

背景

肾上腺皮质癌（ACC）是一种罕见但高度恶性的肿瘤，治疗选择有限。

方法

本研究分析了 22 例 ACC 和 22 例肾上腺皮质腺瘤（ACA）的临床病理特征，分别采用免疫组织化学、荧光原位杂交（FISH）和 Scorpion Amplification Refractory Mutation System（ARMS）检测所有肿瘤的 EGFR 蛋白表达、EGFR 基因突变状态和 EGFR 基因拷贝数改变。

结果

63.6%的 ACC 样本中检测到 EGFR 蛋白表达，50%的 ACC 样本中 EGFR FISH 阳性（均为染色体 7 的高多倍体）。相比之下，27.3%的 ACA 样本中 EGFR 表达，FISH 检测无一例阳性。ACC 和 ACA 在蛋白表达（P=0.035）和基因拷贝数改变（P<0.001）方面存在显著差异。