Xp11.2易位/TFE3基因融合相关性肾癌1例报告及文献复习

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床表现、诊断及治疗方法。方法:回顾性分析2005年12月~2015年12月收治的1例病理诊断为Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料,并结合最新文献对本病的流行病学、病理学、影像学以及治疗和预后进行总结分析。结果:CT显示肾占位病变,B超检查考虑为错构瘤可能性大。术中冷冻切片病理检查为肾癌,行后腹腔镜肾癌根治性切除术,术后未行其他辅助治疗。病理检查诊断为Xp11.2易位/TFE3基因融合相关性肾癌。随访12个月,未见明显复发或进展征象。结论:Xp11.2易位/TFE3基因融合相关性肾癌是一种临床罕见的易位性肾癌,主要发病于儿童和年轻人。确诊依赖于病理学和免疫组织化学;根治性手术切除为主要治疗方法,预后较差。     

Xp11.2易位/TFE3基因融合相关性肾癌的临床分析

目的对Xp11.2易位/TFE3基因融合相关性肾癌的临床病例及病理特征进行分析,以求对该疾病进一步认识。方法筛选2010年1月至2018年1月收治的Xp11.2易位/TFE3基因融合相关性肾癌患者32例,其中男性18例,女性14例;年龄13~77岁,平均45岁;肿瘤直径1.5~12.0 cm,平均8.5 cm;其中15例常规体检发现,10例腰部不适、7例肉眼血尿就诊。影像学检查平扫示低密度影,边界欠清,增强扫描呈不均匀轻度强化,均考虑恶性可能,建议病理检查。32例患者均行腹腔镜下肾根治性切除术。结果32例患者术后均行病理检查,病理常规镜下显示细胞多透明,巢状、乳头状生长,伴或者不伴大片坏死,出血;免疫组织化学检查示TFE3均(+)、CD10、Vimentin、RCC、PAX-8、EMA、CK8/18、CKpan等均呈不同程度的阳性。术后病理诊断均为Xp11.2易位TFE3基因融合相关性肾癌。术后20例接受白细胞介素-2治疗,7例接受细胞回输治疗,5例接受舒尼替尼靶向药物治疗。随访10~72个月,平均53个月。2例术后18个月出现脑转移死亡;3例术后14个月出现全身多处骨转移;接受靶向药物辅以唑来膦酸注射液治疗后,肿瘤暂无无明显进展。其他患者均恢复尚可。结论Xp11.2易位TFE3基因融合相关性肾癌好发于儿童,且免疫组织化学检查(IHC)TFE3阳性是诊断该病的重要标准,本研究即靠IHC结果确诊,手术治疗仍是该病首选的治疗方案,出现区域淋巴结转移时可辅以靶向治疗。     

Xp11.2易位/TFE3基因融合相关肾细胞癌12例病例分析并文献复习

目的:探讨Xp11.2易位/TFE3基因融合相关肾细胞癌影像学、病理学特征及预后。方法:回顾性分析12例Xp11.2易位/TFE3基因融合相关肾细胞癌病例的临床资料,并复习相关文献。结果:12例Xp11.2易位/TFE3基因融合相关性肾癌中TNM分期5例T1M0N0,3例T2M0N0,1例T2N1M0,1例T3N1M0,2例T4N2M0,影像学CT值增强幅度为(31±7.5)HU。术后病理瘤组织表现为嗜酸性红染,间质内可见砂砾体结构等典型特征,免疫组化显示TFE3+、CD10+,随访4~28个月,3例死亡,9例未见肿瘤复发及转移。结论:Xp11.2易位/TFE3基因融合相关性肾癌特征性影像学表现为CT轻度不均匀强化,存在特征性组织病理学改变和免疫标记TFE3阳性,TFE3免疫组化是目前临床筛选诊断的普遍方法。预后与其年龄、肿瘤分期及亚型有关。     

Xp11.2易位/TFE3基因融合相关性肾癌1例报告及文献复习

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床表现、诊断与治疗,以提高本病的诊治水平。方法:回顾性分析收治的1例Xp11.2易位/TFE3基因融合相关性肾癌患者临床资料,并结合最新文献对本病的病因学、病理学、影像学、分子生物学特征以及治疗和预后进行总结分析。结果:因右输尿管上段结石、左肾肿瘤同期行右输尿管切开取石术以及腹腔镜下保留肾单位左肾肿瘤切除术。肉眼见肿瘤包膜完整,剖面灰黄质软。术后病理检查报告为由透明细胞构成的乳头状结构,伴有嗜酸性颗粒胞浆的癌细胞组成的巢状结构。免疫组化显示cytokeratin(-),Vimentin(+),上皮膜抗原(EMA)(+),CD10(+)。诊断为Xp11.2易位/TFE3基因融合相关性肾癌。术后定期随访,未见肿瘤复发及转移。结论:Xp11.2易位/TFE3基因融合相关性肾细胞癌临床上罕见,成人患者恶性度高。早期诊断和治疗是提高其疗效的关键。     

Xp11.2易位/TFE3基因融合相关性肾癌与肾透明细胞癌的螺旋CT诊断鉴别

目的评价螺旋CT扫描在Xp11.2易位/TFE3基因融合相关性肾癌和肾透明细胞癌的诊断和鉴别诊断中的应用价值。方法回顾性分析经手术病理证实为Xp11.2易位/TFE3基因融合相关性肾癌和肾透明细胞癌的24例患者的螺旋CT资料。其中Xp11.2易位/TFE3基因融合相关性肾癌和肾透明细胞癌各12例。结果 Xp11.2易位/TFE3基因融合相关性肾癌组和肾透明细胞癌组的平均CT值增强量（即增强扫描动脉相肿瘤最大横截面平均CT值-平扫相上肿瘤最大横截面平均CT值）分别为（31.75±14.73）Hu和（88.30±31.91）Hu,Xp11.2易位/TFE3基因融合性肾癌的CT增强幅度明显小于肾透明细胞癌（P〈0.01）。结论观察病灶的CT值,可以帮助医师初步确定术前肿瘤的病理亚型。     

成人 Xp11．2易位/TFE3基因融合相关性肾癌的临床分析

目的：探讨成人 Xp11．2易位/TFE3基因融合相关性肾癌的临床特点和诊治方案.方法结合文献,回顾性分析2009年5月至2015年6月我院收治的8例经病理检查确诊为Xp11．2易位/TFE3基因融合相关性肾癌成人患者的临床资料.结果8例患者结合组织病理学和免疫组化结果得以确诊,均行手术治疗,3例辅助靶向治疗,术后随访3~69个月,5例无瘤存活,3例复发死亡.结论 Xp11．2易位/TFE3基因融合相关性肾癌是一种罕见的肾癌亚型,成年患者预后欠佳,早期诊断、积极治疗、密切随访能有效改善预后.     

Xp11.2易位/TFE3基因融合相关性肾癌两例并文献复习

目的 探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特点、治疗及预后。方法 对在我院确诊的2例Xp11.2易位/TFE3基因融合相关性肾癌的临床资料进行回顾性分析并对相关文献进行复习。结果 分别发现患者例1和例2右肾、左肾占位,例1肿瘤大小约11 cm,例2约6 cm,例1和例2分别行开腹右肾、左肾根治性切除术,术后标本进行免疫组化染色均为TFE3(+),例1术后复查发现有肺转移,然后开始口服分子靶向药物,随访18个月,发现疾病再次进展,现已发现骨转移。例2术后未行进一步治疗,目前随访24个月,尚未发现局部复发及远处转移。结论Xp11.2易位/TFE3基因融合相关性肾癌是一种Xp11.2染色体易位导致TFE3与其他基因相融合的罕见肾癌,通常无特异性临床表现,结合影像学、组织病理学、免疫组化染色有助于确诊,在成年人中发病的恶性程度较高,手术切除患肾是治疗此类肾癌的首选方案,分子靶向药物对治疗有一定疗效。     

Xp11.2易位/TFE3基因融合相关性肾癌7例报告并文献复习

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床诊断及治疗。方法:结合文献回顾性分析我院于2003年1月~2013年10月病理确诊为Xp11.2易位/TFE3基因融合相关性7例肾癌患者的临床资料,术前均诊断为肾占位性病变,均行根治性肾切除术。结果:全部患者临床表现缺乏特异性。大体标本切面6例为灰黄色或黄褐色,部分伴有坏死和出血,1例为囊性且囊壁厚而粗糙。镜下均可见透明细胞构成的乳头状结构伴较多钙化结节。术后1例化疗,2例行生物靶向治疗,1例在术后2年复发并开始行生物靶向治疗。术后随访2例复发,3例随访12~40个月,未见明显复发或进展征象,2例分别在术后20个月及24个月失访。结论:Xp11.2易位/TFE3基因融合相关性肾癌是一种少见的肾脏恶性肿瘤,主要发生于儿童和年轻人,确诊依赖于病理学,以手术治疗为主,术后可行辅助治疗,预后较差。     

成人Xp11.2易位/TFE3基因融合相关性肾癌26例报告

目的:探讨成人Xp11.2易位/TFE3基因融合相关性肾癌(简称Xp11.2肾细胞癌)的临床特征、治疗及预后。方法:回顾性分析2015年8月～2017年3月我院收治的26例Xp11.2肾细胞癌成人患者的临床资料,分析该类型肿瘤的影像学特征、诊断、治疗方法及预后。结果:26例患者中,男10例,女16例;年龄19～59岁,平均31.4岁。其中13例行腹腔镜肾癌根治术,2例行腹腔镜肾部分切除术,3例行机器人辅助腹腔镜肾癌根治术,2例行机器人辅助腹腔镜肾部分切除术,5例行开放肾癌根治术,1例肾癌根治术后因纵隔转移穿刺确诊后行靶向药物治疗。术后病理结果均提示Xp11.2肾细胞癌。术后平均随访时间12(1～36)个月,1例患者因肿瘤全身多发转移死亡,2例失访,其余23例均预后较好。结论:Xp11.2肾细胞癌临床发病率较低,诊断主要结合其特征性的影像学表现、免疫组织化学染色及FISH确诊实验,手术主要以肾癌根治性切除术为主,短期随访预后尚可,但仍需长期随访。     

儿童机器人辅助腹腔镜下Xp11.2易位/TFE3基因融合相关性肾癌根治术的初步探讨

目的探讨儿童机器人辅助腹腔镜下Xp11.2易位/TFE3基因融合相关性肾癌根治术的安全及疗效性。 方法回顾性分析2017至2019年我院采用机器人辅助腹腔镜下对Xp11.2易位型肾癌患儿行肾癌根治术的临床资料,并结合国内外文献对本病的流行病学特点、临床表现、病理、影像及治疗和预后进行总结分析。 结果2例患儿,年龄分别为4岁5个月及6岁3个月,男性、女性各1例,主诉均为无痛性肉眼血尿,超声、CT及磁共振提示左肾占位。通过机器人辅助腹腔镜下完成根治性肾切除手术,未中转开放。术后病理检查报告肿瘤剖面灰黄色,质软,主要由透明细胞组成,瘤细胞伴有嗜酸性颗粒胞浆,组成巢状结构,透明变性的结节内可见散在砂粒体。免疫组化显示TEF3（+）,CD10（+）,CK（-）,WT1（-）,Vimentin（-）,EMA（-）,Ki-67（+2%）,Bcl-2（+）,CD34（-）,S100（-）,DES（-）,CD99（-）,INI-1（+）,符合Xp11.2易位型肾癌。术后给予定期随访,未见肿瘤复发及转移。 结论机器人辅助腹腔镜下肾癌根治术可以安全、有效地应用于儿童早期Xp11.2易位型肾癌的治疗。     

A case of xp11.2 translocation renal cell carcinoma

Xp11.2/TFE3 translocation renal cell carcinoma (RCC), a recently classified distinct subtype, is a rare tumor that usually affects children and adolescents. The morphology and biological behavior are not widely recognized, Xp11.2 translocation RCC is suggestive of early metastases despite the small tumor size. The definitive diagnosis requires the evidence of several different reciprocal translocations involving the TFE3 gene located on chromosome Xp11.2. Here, we present a case of Xp11.2 translocation RCC in an 18-yearold male. He was referred to our hospital because of a right renal tumor with macroscopic hematuria and right flank colic. The radiographic evaluation including magnetic resonance imaging (MRI) suggested it to be a typical papillary renal cell carcinoma or benign renal tumor. He underwent laparoscopic nephrectomy against the repeat symptom in spite of small tumor (3.5 cm in diameter). The immunohistochemical study revealed nuclear staining for TFE3 protein in the cancer cells. The urologic and radiologic outcomes were satisfactory after more than 1 year of follow-up.     

An aggressive course of Xp11 translocation renal cell carcinoma in a 28-year-old man

Abstract:   Cases of renal cell carcinoma (RCC) associated with Xp11 translocations are rare and are reported predominantly in children. We report a case of a young man who developed an aggressive Xp11 translocation RCC. A 28-year-old man presented with back pain, fever and macroscopic hematuria. Computed tomography of the abdomen showed a heterogeneous mass in the left kidney. Left radical nephrectomy was performed. Hematoxylin–eosin staining revealed nested and papillary architecture, clear and eosinophilic cytoplasm and vesicles with prominent nucleoli. Immunohistochemical evaluation revealed that the tumor cells showed nuclear labeling for TFE3 protein. On the basis of these findings, the case was diagnosed as Xp11 translocation RCC. This tumor massively recurred and led to the patient's death 2 years after the initial diagnosis. The utility of immunohistochemistry using antibodies against TFE3 in RCC occurring in young adults may be necessary for accurate diagnosis.     

Morphologic and molecular characterization of renal cell carcinoma in children and young adults

A new WHO classification of renal cell carcinoma has been introduced in 2004. This classification includes the recently described renal cell carcinomas with the ASPL-TFE3 gene fusion and carcinomas with a PRCC-TFE3 gene fusion. Collectively, these tumors have been termed Xp11.2 or TFE3 translocation carcinomas, which primarily occur in children and young adults. To further study the characteristics of renal cell carcinoma in young patients and to determine their genetic background, 41 renal cell carcinomas of patients younger than 22 years were morphologically and genetically characterized. Loss of heterozygosity analysis of the von Hippel-Lindau gene region and screening for VHL gene mutations by direct sequencing were performed in 20 tumors. TFE3 protein overexpression, which correlates with the presence of a TFE3 gene fusion, was assessed by immunohistochemistry. Applying the new WHO classification for renal cell carcinoma, there were 6 clear cell (15%), 9 papillary (22%), 2 chromophobe, and 2 collecting duct carcinomas. Eight carcinomas showed translocation carcinoma morphology (20%). One carcinoma occurred 4 years after a neuroblastoma. Thirteen tumors could not be assigned to types specified by the new WHO classification: 10 were grouped as unclassified (24%), including a unique renal cell carcinoma with prominently vacuolated cytoplasm and WT1 expression. Three carcinomas occurred in combination with nephroblastoma. Molecular analysis revealed deletions at 3p25-26 in one translocation carcinoma, one chromophobe renal cell carcinoma, and one papillary renal cell carcinoma. There were no VHL mutations. Nuclear TFE3 overexpression was detected in 6 renal cell carcinomas, all of which showed areas with voluminous cytoplasm and foci of papillary architecture, consistent with a translocation carcinoma phenotype. The large proportion of TFE3 "translocation" carcinomas and "unclassified" carcinomas in the first two decades of life demonstrates that renal cell carcinomas in young patients contain genetically and phenotypically distinct tumors with further potential for novel renal cell carcinoma subtypes. The far lower frequency of clear cell carcinomas and VHL alterations compared with adults suggests that renal cell carcinomas in young patients have a unique genetic background.     

Xp11.2易位/TFE3融合基因相关性肾癌18例报告

目的 探讨XP11.2易位/TFE3融合基因相关性肾癌的治疗方式及研究进展.方法 回顾性分析2009年1月至2015年6月在本院诊断为XP11.2易位性肾癌18例病例临床资料.结果 10例患者发病年龄均在45岁以下.肾肿瘤均为单侧,外科治疗根据肿瘤位置及肿瘤大小分别行腔镜下保留肾单位肾肿瘤切除术或根治性肾切除术.术后患者无明显并发症,术后恢复快,术后随访时间为6～80个月,术后患者每半年均行胸部及泌尿系CT平扫检查,术后2例出现肺部转移,术后35个月死亡1例.结论 Xp11.2易位肾癌好发于年轻患者,是一种新分型的肾癌独立亚型,具有独特基因类型改变的,恶性程度高,外科治疗是此病的首选方案.