PMID- 26880493 OWN - NLM STAT- MEDLINE DCOM- 20170105 LR - 20221207 IS - 2045-2322 (Electronic) IS - 2045-2322 (Linking) VI - 6 DP - 2016 Feb 16 TI - Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population. PG - 21677 LID - 10.1038/srep21677 [doi] LID - 21677 AB - 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. FAU - Qu, Yuanyuan AU - Qu Y AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Gu, Chengyuan AU - Gu C AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Wang, Hongkai AU - Wang H AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Chang, Kun AU - Chang K AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Yang, Xiaoqun AU - Yang X AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. AD - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. FAU - Zhou, Xiaoyan AU - Zhou X AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. AD - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. FAU - Dai, Bo AU - Dai B AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Zhu, Yao AU - Zhu Y AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Shi, Guohai AU - Shi G AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Zhang, Hailiang AU - Zhang H AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. FAU - Ye, Dingwei AU - Ye D AD - Department of Urology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China. AD - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China. LA - eng PT - Evaluation Study PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20160216 PL - England TA - Sci Rep JT - Scientific reports JID - 101563288 RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) RN - 0 (TFE3 protein, human) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Asian People MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*analysis/genetics MH - Carcinoma, Renal Cell/*diagnosis/pathology MH - *Chromosomes, Human, X MH - Diagnostic Errors MH - Female MH - Humans MH - Immunohistochemistry/*methods MH - *In Situ Hybridization, Fluorescence MH - Male MH - Middle Aged MH - Survival Analysis MH - *Translocation, Genetic MH - Young Adult PMC - PMC4754949 EDAT- 2016/02/18 06:00 MHDA- 2017/01/06 06:00 PMCR- 2016/02/16 CRDT- 2016/02/17 06:00 PHST- 2015/09/25 00:00 [received] PHST- 2015/12/30 00:00 [accepted] PHST- 2016/02/17 06:00 [entrez] PHST- 2016/02/18 06:00 [pubmed] PHST- 2017/01/06 06:00 [medline] PHST- 2016/02/16 00:00 [pmc-release] AID - srep21677 [pii] AID - 10.1038/srep21677 [doi] PST - epublish SO - Sci Rep. 2016 Feb 16;6:21677. doi: 10.1038/srep21677.