Abstract
To investigate the clinical characteristics, treatments and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC), the epidemiological features and treatment results of 34 cases of Xp11.2 tRCC, which were diagnosed by immunohistochemistry staining of TFE3 and fluorescence in situ hybridization at our center, were retrospectively reviewed. The 34 patients included 21 females and 13 males aged 3 to 64 years (median age: 27 years). Four patients were children or adolescents (<18 years of age), and 26 patients were young or middle-aged adults (18–45 years). Radical nephrectomy was performed on 25 patients. Laparoscopic nephron-sparing surgery was performed on 9 patients who presented with an isolated mass with a small diameter (<7 cm) and well-defined boundary on computed tomography imaging. Postoperative staging showed that 25 cases (73.53%) were at stage I/II, while 9 cases (26.47%) were at stage III/IV. All stage I/II patients received a favorable prognosis with a three-year overall survival rate of 100%, including the patients who underwent laparoscopic nephron-sparing surgery. With the exception of 2 children, the other 7 stage III/IV patients died or developed recurrence with a median follow-up of 29 months. On univariate analysis, maximum diameter, adjuvant treatment, TNM stage, lymph node metastasis, inferior vena cava tumor thrombosis and tumor boundary were identified as statistically significant factors impacting survival (P<0.05). Multivariate analysis indicated that TNM stage and inferior vena cava tumor thrombosis were independent prognostic factors (P<0.05). In conclusion, Xp11.2 tRCC is a rare subtype of renal cell carcinoma that mainly occurs in young females. Nephron-sparing surgery was confirmed effective preliminarily in the treatment of small Xp11.2 tRCCs with clear rims. Advanced TNM stage and inferior vena cava tumor thrombosis were associated with poor prognosis.
Highlights
Since being recognized as a distinct entity by the World Health Organization (WHO) in 2004 [1], Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) has attracted broad attention [2,3,4,5]
Immunohistochemical staining for TFE3 (TFE3-IHC) serves as the basic method for the diagnosis of Xp11.2 tRCC, numerous reports have shown that TFE3-IHC has fairly high false-positive rates and low predictive values, which results in misdiagnoses in patients [4, 9,10,11]
With the exception of one patient who had a history of microcarcinoma thyroid in the previous 2 years, none of the patients had a history of tumors or chemotherapy
Summary
Since being recognized as a distinct entity by the World Health Organization (WHO) in 2004 [1], Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) has attracted broad attention [2,3,4,5]. Renal cell carcinoma associated with t(6;11)(p21;q12)/TFEB gene fusions has been found to share similar pathology, epidemiology and genetics characteristics with Xp11.2 tRCC[6]. To assess whether ASPL-TFE3 RCC, one of the subtypes of Xp11.2 tRCC with a fusion pattern of t(x;17)(p11.2;q25), showed more aggressive progress than other subtypes, we used an ASPL-TFE3 dual-fusion FISH probe for the diagnosis of ASPL-TFE3 RCC. Both the TFE3 break-apart FISH probe and ASPL-TFE3 dual-fusion FISH probe were demonstrated to identify the TFE3 and ASPL-TFE3 fusion genes, respectively, in our previous investigations [11, 15]
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.
