摘要
目的:探讨延胡索酸水合酶缺陷型肾细胞癌(fumarate hydratase-deficient renal cell carcinoma,FH-RCC)的临床病理特征及预后。方法:应用免疫组织化学染色的方法检测北京大学第一医院泌尿外科2013年1月至2019年12月收治的109例60岁及以下不同类型肾细胞癌患者肿瘤组织中延胡索酸水合酶(fumarate hydratase,FH)的表达情况,分析FH-RCC的临床病理特征及预后。结果:筛选出11例FH-RCC患者,其中男性7例,女性4例,发病年龄16~53岁(平均36.7岁)。4名女性患者均有子宫肌瘤病史,仅1例患者的一级亲属有肾癌家族史,所有患者均无皮肤平滑肌肿瘤的病史及家族史。肾细胞癌的肿瘤直径2.1~12.0 cm(平均8.83 cm),9例患者有肾窦或肾周脂肪侵犯,6例有肾静脉或下腔静脉内瘤栓形成,7例有淋巴结转移,4例侵犯肾上腺,1例侵犯脾脏被膜。11例患者中7例(7/49例,14.3%)原诊断为Ⅱ型乳头状肾细胞癌,2例(2/9例,22.2%)原诊断为集合管癌,2例(2/51例,3.9%)原诊断为未分类型肾细胞癌。肿瘤组织病理学大多表现为乳头状、管囊状、实性片状等不同结构的混合,最常见的组织结构为乳头状(9/11例,81.8%)及管状(8/11例,72.7%)结构,3例伴有肉瘤样分化。肿瘤细胞均可见灶状分布大而明显的嗜酸性核仁(WHO/国际泌尿病理协会Ⅲ~Ⅳ级)及核周空晕。免疫组织化学检测显示,癌组织CA9、CD10、CK7染色大多阴性,2例TFE3阳性表达的病例经荧光原位杂交技术(fluorescence in situ hybridization,FISH)检测,结果显示TFE3基因均未发生易位或扩增。11例患者均获得随访资料,随访时间11~82个月,确诊后患者平均生存期为24个月,其中5例于术后9~31个月(平均19个月)因肿瘤远处转移而死亡,6例存活患者中已有5例发生了远处转移。结论:FH-RCC在组织形态学上与多种肾细胞癌有重叠,乳头状及管囊状排列方式的混合存在是FH-RCC最常见的生长方式,癌细胞中灶状出现大而明显的�
Objective:To investigate the clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma(FH-RCC).Methods:Immunohistochemical(IHC)staining was used to detect the expression of fumarate hydratase(FH)in tumor tissues of 109 different types of renal cell carcinoma(RCC)patients aged 60 years and younger from the Department of Urology of Peking University First Hospital from January 2013 to December 2019.The clinicopathological data and prognosis of FH-RCC were collected and analyzed.Results:There were eleven patients with FH-negative expression.Seven were males and four females.The age of onset ranged 16-53 years(mean age:36.7 years),and four female patients all had a history of uterine leiomyoma.Only one first-degree relative of one patient had renal cancer,and none of the patients had a history or family history of cutaneous leiomyomas.The diameter of the tumor was 2.1-12.0 cm(mean:8.83 cm).Renal sinus or perirenal fat invasion was seen in nine cases,tumor thrombus in renal vein or inferior vena cava in six cases,lymph node metastasis in seven cases,adrenal gland invasion in four cases and splenic capsule invasion in one case.The cases were initially diagnosed as typeⅡpapillary RCC(7/49,14.3%),collecting duct carcinoma(2/9,22.2%)and unclassified RCC(2/51,3.9%).Tumor histopathology mostly showed a mixture of different structures,such as papillary,tubular cystic,solid,and so on.The most common histological structures were papillary(9/11,81.8%)and tubular(8/11,72.7%).Three cases had sarcomatoid areas.At least focal eosinophilic nucleolus(WHO/gradesⅢ-Ⅳ)and perinuclear halo could be seen in all cases.Immunohistochemical(IHC)stains of most tumors were negative for CA9,CD10 and CK7.The results of fluorescence in situ hybridization(FISH)showed that there was no translocation or amplification of TFE3 gene in two cases with TFE3 IHC expression.All the patients were followed up for 11-82 months.Mean survival was 24 months.Five cases died of distant metastasis 9-31 months after operatio
作者
于妍斐
何世明
吴宇财
熊盛炜
沈棋
李妍妍
杨风
何群
李学松
YU Yan-fei;HE Shi-ming;WU Yu-cai;XIONG Sheng-wei;SHEN Qi;LI Yan-yan;YANG Feng;HE Qun;LI Xue-song(Department of Urology,Peking University First Hospital,Institute of Urology,Peking University,National Urological Cancer Center,Beijing 100034,China)
出处
《北京大学学报（医学版）》
CAS
CSCD
北大核心
2021年第4期640-646,共7页
Journal of Peking University:Health Sciences
基金
北京大学第一医院科研种子基金(2020SF36)。
关键词
肾细胞癌
延胡索酸水合酶
免疫组织化学
预后
Renal cell carcinoma
Fumarate hydratase
Immunohistochemistry
Prognosis
