CAJ | 학술논문

目的：探讨肾上腺嗜酸细胞型皮质癌临床病理特征及其表皮生长因子受体（ epidermal growth factor receptor， EGFR）蛋白表达、基因突变和基因拷贝数改变情况。方法回顾性分析2000年1月至2009年12月在北京协和医院手术切除的9例肾上腺嗜酸细胞型皮质癌的临床特点、组织形态学特征，并以9例肾上腺嗜酸细胞型皮质腺瘤为对照，应用免疫组织化学、 Scorpion ARMS突变系统及荧光原位杂交（ fluorescence in situ hybridization， FISH）的方法分析EGFR在二者中的蛋白表达、基因突变和基因拷贝数改变的情况。结果9例肾上腺嗜酸细胞型皮质癌中，Cushing综合征2例，无功能性皮质癌7例。病例随访时间6～56个月，皮质癌患者失访2例，死亡6例。肾上腺嗜酸细胞型皮质癌中EGFR蛋白过表达率为77.8％（7／9）， EGFR FISH阳性率为55.6％（5／9）；仅有22.2％（2／9）皮质腺瘤存在 EGFR蛋白的表达，且EGFR FISH均为阴性。肾上腺嗜酸细胞型皮质腺瘤及皮质癌中均未检测出EGFR基因扩增及基因突变。结论肾上腺嗜酸细胞型皮质癌非常罕见，其诊断依据病理学及免疫表型， EGFR蛋白过表达和7号染色体的高多体性较腺瘤更常见，可能有助于与后者的鉴别诊断，也有可能成为今后临床分子靶向治疗的潜在方向。
목적：탐토신상선기산세포형피질암림상병리특정급기표피생장인자수체（ epidermal growth factor receptor， EGFR）단백표체、기인돌변화기인고패수개변정황。방법회고성분석2000년1월지2009년12월재북경협화의원수술절제적9례신상선기산세포형피질암적림상특점、조직형태학특정，병이9례신상선기산세포형피질선류위대조，응용면역조직화학、 Scorpion ARMS돌변계통급형광원위잡교（ fluorescence in situ hybridization， FISH）적방법분석EGFR재이자중적단백표체、기인돌변화기인고패수개변적정황。결과9례신상선기산세포형피질암중，Cushing종합정2례，무공능성피질암7례。병례수방시간6～56개월，피질암환자실방2례，사망6례。신상선기산세포형피질암중EGFR단백과표체솔위77.8％（7／9）， EGFR FISH양성솔위55.6％（5／9）；부유22.2％（2／9）피질선류존재 EGFR단백적표체，차EGFR FISH균위음성。신상선기산세포형피질선류급피질암중균미검측출EGFR기인확증급기인돌변。결론신상선기산세포형피질암비상한견，기진단의거병이학급면역표형， EGFR단백과표체화7호염색체적고다체성교선류경상견，가능유조우여후자적감별진단，야유가능성위금후림상분자파향치료적잠재방향。
Objective To explore the clinicopathological features of adrenocortical oncocytic carcinoma and protein expression , gene mutation , and gene copy number alteration of epidermal growth factor receptor ( EGFR) in this carcinoma .Methods We reviewed the clinical and histomorphological features of 9 adrenocorti-cal oncocytic carcinoma cases who received surgical resection in the period of January 2000 to December 2009 in Peking Union Medical College Hospital , and 9 adenoma cases were included as control .EGFR protein expres-sion , EGFR gene mutation and EGFR gene copy number alteration in both groups were detected by immunohisto -chemistry , Scorpion Amplification Refractory Mutation System ( ARMS ) , and fluorescence in situ hybridization ( FISH) , respectively . Results The 9 cases of adrenocortical oncocytic carcinomas included 2 cases of Cushing's syndrome and 7 cases of nonfunctional cortical carcinoma .All cases were followed up for 6 to 56 months, and 2 patients with adrenocortical oncocytic carcinomas lost to follow -up, and 6 died.In the adrenocorti-cal oncocytic carcinoma patients , EGFR overexpression was found in 77.8%(7/9), and EGFR FISH was posi-tive in 55.6%(5/9).In contrast, only 22.2% (2/9) of the adrenocortical adenoma patients showed EGFR weak expression and none had positive FISH result .No EGFR gene amplification or mutation was found in the 2 groups of patients .Conclusions Adrenocortical oncocytic carcinoma is rare .EGFR overexpression and chromo-some 7 polysomy are frequent abnormality in the adrenocortical oncocytic carcinomas , which may be used in the differential diagnosis .Also, an investigation of the gene status of EGFR should facilitate the identification of a target therapeutic regimen for carcinoma patients .