Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population.
Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population.
复制标题
通过免疫组织化学和 FISH 检测诊断成人 Xp11.2 易位肾细胞癌：来自中国人群的临床病理数据。
DOI：
10.1038/srep21677
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发表时间：
2016-02-16
影响因子：
4.6
通讯作者：
Ye D
中科院分区：
文献类型：
--
作者：
Qu Y;Gu C;Wang H;Chang K;Yang X;Zhou X;Dai B;Zhu Y;Shi G;Zhang H;Ye D
本研究旨在探讨转录因子E3（TFE 3）断裂荧光原位杂交（FISH）技术在诊断Xp 11. 2易位肾细胞癌（Xp 11. 2 RCC）中的应用价值，并比较成人Xp 11. 2 RCC与非Xp 11.2 RCC的临床病理特征。76例病理学疑似Xp11.2 RCC从我们的机构招募。对整个队列进行TFE 3免疫组织化学（IHC）和TFE 3 FISH测定。使用Kaplan-Meier方法估计无进展生存期（PFS）和总生存期（OS）曲线。FISH检测30例Xp11.2肾癌，其中TFE 3阳性28例，阴性2例。与FISH法相比，TFE 3法的假阳性率为6.7%（2/30），假阴性率为4.3%（2/46）。与non-Xp 11.2肾癌相比，Xp11.2肾癌的病理分期和Fuhrman核分级明显增高（P < 0.05）。TFE 3 FISH阳性组的中位PFS和OS分别为13.0个月（95%CI，8.4-17.6个月）和50.0个月（95%CI，27.6-72.4个月），而TFE 3 FISH阴性组尚未达到中位PFS和OS。结论：TFE 3断裂FISH技术是诊断Xp11.2肾细胞癌的一种非常有效的标准方法。成人Xp11.2肾细胞癌临床上具有侵袭性，常出现在晚期，预后差。
This study aimed to assess the utility of transcription factor E3 (TFE3) break-apart fluorescence in situ hybridization (FISH) assay in diagnosis of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) and to compare the clinicopathological features between adult Xp11.2 RCC and non-Xp11.2 RCC. 76 pathologically suspected Xp11.2 RCCs were recruited from our institution. Both TFE3 immunohistochemistry (IHC) and TFE3 FISH assay were performed for the entire cohort. The progression-free survival (PFS) and overall survival (OS) curves were estimated using the Kaplan-Meier method. FISH analysis confirmed 30 Xp11.2 RCCs, including 28 cases with positive TFE3 immunostaining and 2 cases with negative immunostaining. The false-positive and false-negative rates were 6.7% (2/30) and 4.3% (2/46), respectively, for TFE3 IHC compared with FISH assay. Xp11.2 RCC was significantly associated with higher pathological stage and Fuhrman nuclear grade compared with non-Xp11.2 RCC (P < 0.05). The median PFS and OS for TFE3 FISH-positive group were 13.0 months (95% CI, 8.4–17.6 months) and 50.0 months (95% CI, 27.6–72.4 months), respectively, while the median PFS and OS had not been reached for TFE3 FISH-negative group. In conclusion, TFE3 break-apart FISH assay is a highly useful and standard diagnostic method for Xp11.2 RCC. Adult Xp11.2 RCC is clinically aggressive and often presents at advanced stage with poor prognosis.