Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population

• DOI: 10.1038/srep21677
• Publication Date: 2016-02-16T12:53:07Z
• Authors: Yuanyuan Qu; Chengyuan Gu; Hongkai Wang; Kun Chang; Xiaoqun Yang; Xiaoyan Zhou; Bo Dai; Yao Zhu; Guohai Shi; Hailiang Zhang; Dingwei Ye
• Keywords: Adult; Male; Chromosomes, Human, X; Adolescent; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Middle Aged; Immunohistochemistry; Survival Analysis; Article; Translocation, Genetic; 3. Good health; Young Adult; 03 medical and health sciences; 0302 clinical medicine; Asian People; Humans; Female; Diagnostic Errors; Carcinoma, Renal Cell; In Situ Hybridization, Fluorescence; Aged

AbstractThis 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.