Abstract
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.
Highlights
Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC), a rare subtype of RCC, was first recognized as a genetically distinct disease entity in the 2004 World Health Organization (WHO) renal tumor classification scheme[1]
Further fluorescence in situ hybridization (FISH) analysis showed that 30 of 76 (39.5%) patients demonstrated transcription factor E3 (TFE3) rearrangement associated with Xp11.2 translocation, including 18 cases with strong TFE3 immunostaining, 10 cases with moderate immunostaining and 2 cases with equivocal or negative immunostaining
As early as 1991, Tomlinson et al published the first case report on Xp11.2 RCC, which occurred in a 17-month-old child[19]
Summary
Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC), a rare subtype of RCC, was first recognized as a genetically distinct disease entity in the 2004 World Health Organization (WHO) renal tumor classification scheme[1]. The aims of the present study were (a) to evaluate the utility of TFE3 break-apart FISH in establishing the diagnosis of Xp11.2 RCC in cases with suspicious pathological features and to assess the accuracy of TFE3 immunostaining by comparing with the FISH assay; and (b) to delineate further the incidence, clinicopathological features, and clinical outcomes of adult Xp11.2 RCC by comparing with non-Xp11.2 RCC patients For these aims, we analyzed the data of 76 suspected Xp11.2 RCC patients, who were recruited from a large series of 2246 patients underwent radical or partial nephrectomy for RCC in our institution during a 7-year period
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
