Abstract

BackgroundLittle is known about the biological behavior of Xp11.2 translocation renal cell carcinomas (RCCs) as few clinical studies have been performed using a large sample size.MethodsThis study included 103 consecutive young adult patients (age ≤ 45 years) with RCC who underwent partial or radical nephrectomy at our institution from 2008 to 2013. Five patients without complete clinical data were excluded. Of the 98 remaining patients, 16 and 82 patients were included in the Xp11.2 translocation and non-Xp11.2 translocation groups, respectively. Clinicopathologic data were collected, including age, gender, tumor size, laterality, symptoms at diagnosis, surgical procedure, pathologic stage, tumor grade, time of recurrence and death.ResultsXp11.2 translocation RCCs were associated with higher tumor grade and pathologic stage (P < 0.05, Fisher’s exact test). During the median follow-up of 36 months (range: 3–71 months), the number of cancer-related deaths was 4 (4.9 %) and 3 (18.7 %) in the non-Xp11.2 translocation and Xp11.2 translocation groups, respectively. The Kaplan-Meier cancer specific survival curves revealed a significant difference between non-Xp11.2 translocation RCCs and Xp11.2 translocation RCCs in young adults (P = 0.042).ConclusionsCompared with non-Xp11.2 translocation RCCs, the Xp11.2 translocation RCCs seemingly showed a higher tumor grade and pathologic stage and have similar recurrence-free survival rates but poorer cancer-specific survival rates in young adults.

Highlights

  • Little is known about the biological behavior of Xp11.2 translocation renal cell carcinomas (RCCs) as few clinical studies have been performed using a large sample size

  • The Xp11.2 translocation RCCs were significantly associated with higher tumor grade and pathologic stage

  • Our study revealed an incidence of 1.8 % (16/879) in all adult RCCs and 15.5 % (16/103) in young adult RCCs, which was consistent with previous reports

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Summary

Introduction

Little is known about the biological behavior of Xp11.2 translocation renal cell carcinomas (RCCs) as few clinical studies have been performed using a large sample size. Xp11.2 translocation RCC was first listed as a specific disease entity in the World Health Organization Classification of Tumors in 2004 [3]. This RCC subtype is defined by different translocations involving chromosome Xp11.2, all of which result in transcription factor E3. Several fusions of the TFE3 gene with different genes have been identified to date, including ASPL(17q25), PRCC(1q21), PSF(1q34), NonO(Xq12) and CLTC(17q23) [4]. Another subset of RCC is associated with transcription factor EB (TFEB) resulting from t(6;11)(p21;q12). PRCC-TFE3 RCCs [5] and ASPL-TFE3 RCCs [6] are the most frequent kinds of Xp11.2 translocation RCCs

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