成人Xp11.2易位/TFE3基因融合相关性肾癌三例病理分析并文献复习

目的探讨Xp11.2易位/TFE3基因融合相关性肾细胞癌的临床特征、病理诊断及预后。方法收集济宁医学院附属医院2013-01-01-2019-05-01确诊为Xp11.2易位/TFE3基因融合相关性肾癌3例临床资料,结合组织病理学、免疫组织化学方法及文献分析进行总结。结果3例患者年龄26~33岁,瘤体最大直径2.5~8.5cm。3例病例均具有纤维血管轴心的乳头状结构以及"假菊形团"结构,肿瘤由具有透明或嗜酸性细胞质的细胞构成,肿瘤细胞具有明显核仁,核仁等级均较低。其中第2例肿瘤局部可见多房囊性生长区域,类似低度恶性潜能多房囊性肾肿瘤,以及高柱状细胞排列成分泌性子宫内膜样结构和砂砾体结构;第3例肿瘤部分呈实性生长模式,高柱状肿瘤细胞呈腺样排列。免疫组织化学染色显示,3例肿瘤组织均表达TFE3、CD10及RCC,不同程度表达Vimentin、p504S、Melan-A,均不表达CK7、CA-IX和CD117。2例获得随访,均无复发及转移。结论Xp11.2 RCC是种少见类型的肾癌,具有独特的的组织学形态及免疫表型,需提高诊断水平以确保正确临床治疗。     

Xp11.2易位/TFE3基因融合相关性肾癌临床分析(附12例)北大核心

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床特征,提高对该病的认识。方法:回顾性分析我院2015年01月至2020年12月术后经病理证实的12例Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料。结果:临床表现为肉眼血尿2例,腰部疼痛5例,体检发现肾脏占位2例,血尿伴腹痛1例,血尿伴腰痛1例,腹部疼痛1例,病程为5天~8年。术后病理均诊断为Xp11.2易位/TFE3基因融合相关性肾癌;肿瘤直径范围2.0~12.0 cm,镜下见大量透明细胞呈乳头状、腺泡样分布,可伴砂粒体形成;12例免疫组织化学检查均为TFE3阳性,CD10阳性率为91.7%(11/12),Vimentin阳性率为66.7%(8/12),P504S阳性率为66.7%(8/12),EMA、CK7、CK8呈不同程度阳性表达。结论:Xp11.2易位/TFE3基因融合相关性肾癌好发于儿童和青年,临床表现主要为肉眼血尿和腰部疼痛,影像学检查有助于其术前诊断及鉴别诊断,目前临床诊断主要依靠免疫组化检测TFE3表达水平。     

肾细胞癌的相关标志物

肾细胞癌是成年人肾脏最常见的恶性肿瘤,其自然过程极难预料,仅依靠分期和分级等尚不能提供足够的预后信息.寻找适合的肿瘤标志物有助于该病的诊断和监测,提供更有效的预后信息,确定发生复发和转移的风险,甚至可以作为肿瘤靶向治疗的标靶,并有助于深入了解肾细胞癌的疾病发展过程和揭示与之有关的分子生物学信息.本文回顾分析了近年来RCC相关性肿瘤标志物的最新研究进展情况.     

Chemotherapy for non-clear-cell renal cell carcinoma

Clear-cell carcinoma is the most common histopathologic subtype of kidney tumors. Consequently, clinical trials for advanced-stage kidney cancer have focused on patients with clear-cell carcinoma and not on the less common subtypes, including papillary, chromophobe, collectingduct carcinoma, and sarcomatoid-variant tumors. Whereas immunotherapy has constituted the standard treatment for patients with clear-cell renal cell carcinoma (RCC), it does not appear to have activity in the management of patients with other histologic subtypes. Novel therapies, including those targeting the vascular endothelial growth factor pathway, have recently demonstrated significant activity in clear-cell RCC. Historically, chemotherapy has shown limited activity in advanced-stage RCC; however, clinical trials to date have failed to individualize treatment based on histologic subtype. In this article, we will review the literature and present our experience with the use of chemotherapy in patients with non-clear-cell kidney cancer by histologic subtype.     

代谢综合征与肾透明细胞癌相关性研究

目的 代谢综合征(metabolic syndrome,MS)是一组临床症候群,MS及其相关组分与癌症发生发展及病理特征具有密切关系.本研究旨在分析MS及其相关组分与肾透明细胞癌(clear cell cenal cell carcinoma,CCRCC)分期、分级及肿瘤大小的相关性.方法 回顾性分析2013-01-01-2015-12-30于山西医科大学第一医院就诊且病理诊断为CCRCC的375例患者的临床资料,包括年龄、性别、身高、体质量、血压、空腹血糖、生化结果、病理分期分级和肿瘤大小等.计数资料采用x2检验,计量资料以(x)±s表示,组间比较采用t检验,多因素分析采用Logistic回归分析.结果 MS组56例患者,其中男性患者32例,女性患者24例;非MS组319例患者,其中男性患者206例,女性患者113例.男女患者比较,差异无统计学意义,P=0.287.MS组与非MS组相比,年龄、吸烟、饮酒等差异无统计学意义,P值分别为0.100、0.691和0.269;而BMI指数、收缩压、空腹血糖、TG、HDL-C等差异均有统计学意义,均P＜0.001.在病理特点方面,MS与非MS相比,CCRCC病理分期(P=0.018)、分级(P=0.026)及肿瘤大小(P=0.026),差异均有统计学意义.MS相关疾病与CCRCC分期分析,糖尿病(P＜0.001)、高血压(P=0.015)、血脂紊乱(P=0.006)与CCRCC的分期有关.结论 CCRCC合并MS者病理分期较高、分级较低、肿瘤更大,糖尿病、高血压和血脂紊乱都可增加CCRCC的病理分期.     

肾嫌色细胞癌的诊断和治疗

目的：探讨肾嫌色细胞癌（renal chromophobe cell carcinoma,RCCC）的临床特征、病理学特点、诊断、治疗方法和预后。方法：回顾性分析2010年2月至2015年4月期间经病理检查证实的11例 RCCC 患者的临床资料,结合相关文献复习并进行讨论。结果：11例患者中7例男性,4例女性,年龄40～71岁,平均59岁。肿物直径3．5～14．5cm。病变位于右侧者6例,左侧5例。术前无症状者6例,单纯性腰背部疼痛不适5例。11例患者均经 CT 检查确诊,均行手术治疗。手术过程顺利,术后均有病理证实为肾嫌色细胞癌。出院后随访3～36个月,无肿瘤复发和转移。结论：RCCC 是一种低度恶性,少见的肾脏肿瘤。手术治疗是首选方法,预后较好。     

35例肾癌术后放疗的临床分析

目的：研究Ⅱ、Ⅲ期肾癌术后放疗的作用。方法：１９９２年１月－１９９５年１月,３５例Ⅱ和Ⅲ期肾癌行术后放疗。照射范围包括肾瘤床、肾蒂、主动脉旁及下腔静脉旁淋巴结区运用ＴＰＳ技术,采用直线加速器１８ＭＶＸ线照射,ＤＴ４５－５０Ｇｙ／５周。结果：失访２例按死亡处理,随访率９４．４％,全组无复发病例,三年及五年生存率各为５７％（２０／３５）和４５．７％（１６／３５）。三年生存率Ⅱ期为６９．２％（９／１３）     

肾细胞癌相关分子标志物研究现状及进展

近年,有关肾细胞癌病理学、遗传性及分子生物学方面的研究取得显著进展,这对提高肾细胞癌早期诊断、预后判断及治疗水平有重要意义。目前研究的多个肾细胞癌相关分子标志物(如CAⅨ、B7-H1等)对于肾细胞癌患者的预后判断有一定意义。本文总结了近年来与肾细胞癌患者有关的肿瘤标志物,分析其与肾细胞癌的诊断、治疗和预后方面关系。     

Neoadjuvant treatment in advanced renal cell carcinoma: current situation and future perspectives

Neoadjuvant approaches in renal cell carcinoma are currently under investigation, following the demonstration of targeted therapy efficacy in the metastatic setting. It raises the issues of downsizing locally advanced or nonresectable tumor and offering organ-sparing surgery, saety and its potential role in early micrometastatic disease. Relevant studies of the neoadjuvant setting in renal cell carcinoma with targeted therapies were identified from the literature, clinical trial databases and conference abstracts. To date, a neoadjuvant approach appears feasible in terms of saety. Currently available drugs do not achieve major tumor downsizing with primary tumor diameters response rate of 10%. Neoadjuvants should only be considered in clinical trials or as a litmus test in locally advanced patients.     

Advances in treatment strategies for non-clear cell renal cell carcinoma

Renal cell carcinoma is the sixth most commonly diagnosed cancer in men and the tenth in women,with clear cell renal cell carcinoma accounting for nearly 75％of cases.The remaining 25％consists of non-clear cell renal cell carcinoma,a diverse and less prevalent group.Although current treatments for clear cell types are well-defined,progress in treating non-clear cell renal cell carcinoma has been limited owing to its heterogeneity and rarity,relying primarily on findings from small-scale phase Ⅱ clinical trials.This review examined recent ad-vancements in the treatment of non-clear cell renal cell carcinoma,particularly in the areas of immunotherapy and targeted therapy.     

Redefining pT3 renal cell carcinoma in the modern era: a proposal for a revision of the current TNM primary tumor classification system

BACKGROUND: The 2002 American Joint Committee on Cancer (AJCC) tumor classification for renal cell carcinoma (RCC) does not take into account concomitant venous invasion and extrarenal tumor extension (ERE). In the current study, the authors evaluated the prognostic significance of venous tumor thrombus (VTT) and its extent, the presence and location of ERE, and a combination of both features on survival after the surgical management of patients with pathologic T3 (pT3) RCC. METHODS: With Institutional Review Board approval, the institutional nephrectomy database of 3470 patients treated at the University of Texas M. D. Anderson Cancer Center from 1990 to 2006 was searched for pT3 RCC patients who were treated with partial or radical nephrectomy. Patients with nonmetastatic, lymph node-negative RCC and a minimum follow-up of 6 months were included in the analysis. RESULTS: A total of 419 patients with pT3N0/NxM0 RCC and a mean follow-up of 40.8 months met the study inclusion criteria. In multivariate Cox regression analyses, the 2002 AJCC primary tumor classification was not found to be an independent predictor of cancer-specific mortality. A total of 211 patients with ERE only (50.4%) and 72 patients with VTT only (17.2%) were found to have a similar risk of death from RCC (hazards ratio [HR] of 1.018; P = .957), whereas 136 patients harboring both features (32.5%) were found to be significantly more likely to die from RCC (HR of 2.660; P < .001). The authors proposed a new primary tumor classification in which they grouped patients with both ERE and VTT (which was found to be an independent predictor of cancer-specific survival) into a separate staging category, and demonstrated improved prognostic ability when compared with the 2002 AJCC classification (c indexes of 0.625 vs 0.580, respectively). CONCLUSIONS: The prognostic accuracy of the 2002 AJCC pT3 tumor classification can be improved by subclassifying patients with ERE only and those with VTT only into a prognostic category that is separate from patients with both ERE and VTT.     

Metastasis of renal cell carcinoma to a meningioma

A case of metastatic renal cell carcinoma within an intracranial meningioma is presented. The pathological and radiological findings are discussed.     

乳头状肾癌的临床病理特征及其预后因素

背景与目的：乳头状肾细胞癌相对少见,目前国内对此类肿瘤的研究较少。本研究总结乳头状肾细胞癌患者的临床病理特征,并对可能影响此类患者生存的预后因素进行探索分析。方法：回顾分析64例乳头状肾细胞癌患者的临床、病理及随访资料。研究终点为总生存期,生存分析数据采用Kaplan-Meier法进行计算,并用Log-rank法对生存率进行比较,进一步对有意义的因素行COX模型多因素回归分析。结果：乳头状肾细胞癌占同期肾癌的6.04%,中位年龄为55岁(22~78岁),54.7%的患者为无症状性肾癌。Ⅰ型肿瘤22例(34.4%),Ⅱ型肿瘤42例(65.6%),组织学亚型与肿瘤的TNM分期、Fuhrman分级和手术方式显著相关。中位随访时间为46.0个月(19~133个月),共14例(21.9%)患者死亡,其中Ⅰ型1例(4.5%),Ⅱ型13例(31.0%,P=0.018),总生存率分别为85.7%和55.8%。单因素分析显示,伴有临床症状、Ⅱ型乳头状肾细胞癌、Fuhrman Ⅲ~Ⅳ级、淋巴结受累、远处转移和肾周脂肪侵犯是此类患者预后的影响因素,多因素分析显示,仅远处转移是影响总生存期的独立因子,差异有统计学意义(HR=14.78,P=0.004)。结论：与国外数据相比,我国乳头状肾细胞癌占肾癌的比重低,Ⅱ型肿瘤相对较常见。确诊时发生转移是影响此类患者总生存期的重要因素。     

替西罗莫司治疗转移性肾细胞癌初探

目的探讨替西罗莫司治疗转移性肾细胞癌的效果。方法 2008年6月4日至2008年12月18日共入组12例转移性肾细胞癌患者,接受替西罗莫司单药治疗,25mg,静脉滴注30～50分钟,每周1次,直至肿瘤进展或出现不可耐受的毒副作用。结果 12例患者中,按MSKCC评分中高危占75%(9/12),其中10例为多程治疗失败。最佳疗效:PR 2例(16.7%),另有6(50%)例患者出现不同程度的肿瘤缩小,PD 2例(16.7%)。临床受益率(CR+PR+SD≥24周)为41.7%(5/12)。中位PFS为8.4个月,中位OS 16.4个月。4例索拉非尼失败的患者的PFS分别为9个月、15个月、2.2个月和18.8个月。主要不良反应包括:皮疹、瘙痒、指甲改变、发热、口腔溃疡、高血糖、胆固醇和甘油三酯升高等。1例患者发生了V度间质性肺炎。结论替西罗莫司治疗转移性肾癌有效,对索拉非尼或舒尼替尼失败的患者的疗效值得进一步研究。代谢异常和间质性肺炎是需要重视的不良反应。     

Solitary breast metastases from a renal cell carcinoma

A case of solitary and metachronous breast metastases from a renal cell carcinoma is described nine years after surgery. The review of the literature proves that the breast is an unusual site for metastatic disease.     

Xp11.2易位性肾癌的研究进展

Xp11.2易位性肾癌是2004年WHO肾细胞癌病理组织学分类中新增的类型.虽然其总体发病率很低,但在儿童肾癌患者中约1/3为此类肾癌.它的临床表现、病理组织学特点、生物学行为及预后都有别于其它类型的肾癌.目前关于Xp11.2易位性肾癌的报道少见.本文对近年来有关Xp11.2易位性肾癌的研究作一综述,分别对其分型、流行病学特点、临床及病理组织学特点、诊断、治疗及预后等方面进行初步总结.     

Bilateral renal cell carcinoma in a horseshoe kidney

We report a case of bilateral renal cell carcinoma in a horseshoe kidney. To the best of our knowledge this is the second reported case in the international literature. We performed different radiological examinations preoperatively to identify of blood supply, because correct preoperative location of vessels is mandatory.     

肿瘤异常糖链糖蛋白在肾癌中的诊断价值

目的:研究外周血肿瘤异常糖链糖蛋白（tumor abnormal protein,TAP）的表达对早期肾癌的诊断价值。方法:对45例肾癌患者（肾癌组）、32例肾脏良性病变患者（肾良性病变组）和42例体检健康人群（正常组）的外周血TAP值进行分析;绘制受试者工作特征（receiver operating characteristics,ROC）曲线评估TAP对肾癌的诊断效能;分析肾癌组中TAP阳性表达与患者临床病理特征的关系。结果:肾癌组中外周血TAP水平明显高于肾良性病变组和正常组。通过评估TAP对肾癌的诊断效能,发现TAP诊断肾癌的ROC曲线下面积为0.92(95%CI:0.82~0.95),其诊断肾癌的灵敏度和特异度分别为73%和91%。结论:肾癌患者外周血中TAP呈高表达,可作为肾癌早期诊断的肿瘤标志物。