Abstract

BackgroundTo investigate the contrast-enhanced ultrasound (CEUS) findings of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) in adult patients by comparison with those of clear cell RCC (ccRCC) and papillary RCC (pRCC).MethodsIn total, 110 patients (110 renal masses) who underwent CEUS examinations were enrolled in this study. The cases included 18 Xp11.2/TFE3 RCCs, 60 ccRCCs and 32 pRCCs. All masses were confirmed by operative pathology. The CEUS imaging data of these patients were retrospectively analysed by two readers. The conventional US and CEUS features of Xp11.2/TFE3 RCC were compared with those of ccRCC and pRCC.ResultsThe age of the patients with Xp11.2/TFE3 RCC ranged from 20 to 68 years, with a mean age of 38.3 ± 16.3 years and a slight female predominance. The weighted kappa value that interprets the concordance between the interobserver agreement of the US and CEUS features ranged from 0.61 to 0.89. On conventional US and CEUS imaging of Xp11.2/TFE3 RCCs, the tumours were hypoechoic (6/18, 33.3%), isoechoic (8/18, 44.4%), and hyperechoic (4/18, 22.2%). The cystic component was present in 5 cases (27.8%), calcification was present in 9 cases (50.0%), and colour flow signal was present in 7 cases (38.9%). Most cases showed simultaneous wash-in (11/18, 61.1%); the peak enhancement showed hypoenhancement (6/18, 33.3%), isoenhancement (10/18, 55.6%), and hyperenhancement (2/18, 11.1%); most cases exhibited heterogeneous enhancement (12/18, 66.7%) and fast- or simultaneous-out (16/18, 88.9%); and a pseudocapsule was present in 6 cases (33.3%). In the multivariate logistic regression analysis, calcification and lower peak enhancement were more likely to be present in Xp11.2/TFE3 RCC than in ccRCC (P < 0.05), and younger age and relatively high peak enhancement were more likely to be present in Xp11.2/TFE3 RCC than in pRCC (P < 0.05). The calcification combined peak enhancement model differentiated Xp11.2/TFE3 RCC from ccRCC, and the age combined peak enhancement model differentiated Xp11.2/TFE3 RCC from pRCC with an AUC, a sensitivity and a specificity of 0.896, 94.4% and 73.3% and 0.786, 50.0% and 100.0%, respectively.ConclusionsThe specific CEUS features combined with demographic information and clinical symptoms may be helpful for differentiating Xp11.2/TFE3 RCC from ccRCC and pRCC.

Highlights

  • To investigate the contrast-enhanced ultrasound (CEUS) findings of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) in adult patients by comparison with those of clear cell RCC and papillary RCC

  • Xp11.2/ TFE3 RCC more frequently affected young women; of these 18 patients, 11 patients (61.1%) were younger than 40 years old, and 7 patients (38.9%) were older than 40 years old, while clear cell RCC (ccRCC) and papillary RCC (pRCC) more frequently affected older men

  • There were two significant predictors for differentiating Xp11.2/ TFE3 RCC from pRCC: younger age and relatively higher peak enhancement were more likely to be present in Xp11.2/TFE3 RCC

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Summary

Introduction

To investigate the contrast-enhanced ultrasound (CEUS) findings of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) in adult patients by comparison with those of clear cell RCC (ccRCC) and papillary RCC (pRCC). Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) is an uncommon subtype of RCC It was first considered as a genetically distinct entity of renal tumours according to the World Health Organization (WHO) classification in 2004 [1]. This renal cell tumour is primarily found in children and adolescents, accounting for 20%~ 40% of paediatric RCCs, but in adults it is very rare, the incidence was reported to be approximately 1–1.6% of all renal tumours [2]. In our study, the CEUS findings of Xp11.2/TFE3 RCC were further compared with those of ccRCC and pRCC to investigate the specific CEUS features for the diagnosis of Xp11.2/TFE3 RCC

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