Department of Ultrasound, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China.
Department of Ultrasound, Jinling Hospital, Medical School of Nanjing University, 305 Zhongshan East Road, Nanjing, 210002, Jiangsu, China.
Cancer Imaging. 2019 Dec 31;20(1):1. doi: 10.1186/s40644-019-0268-7.
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).
In 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.
The 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.
The specific CEUS features combined with demographic information and clinical symptoms may be helpful for differentiating Xp11.2/TFE3 RCC from ccRCC and pRCC.
通过与透明细胞肾细胞癌（ccRCC）和乳头状肾细胞癌（pRCC）相比，研究 Xp11.2 易位/TFE3 基因融合（Xp11.2/TFE3）相关成人患者的肾脏细胞癌（RCC）的超声造影（CEUS）表现。
共纳入 110 名接受 CEUS 检查的患者（110 个肾脏肿块），这些患者包括 18 例 Xp11.2/TFE3 RCC、60 例 ccRCC 和 32 例 pRCC。所有肿块均经手术病理证实。回顾性分析两位读者的这些患者的 CEUS 影像数据。比较 Xp11.2/TFE3 RCC 与 ccRCC 和 pRCC 的常规 US 和 CEUS 特征。
Xp11.2/TFE3 RCC 患者的年龄为 20-68 岁，平均年龄为 38.3±16.3 岁，女性略多。两位观察者之间 US 和 CEUS 特征的一致性的加权 Kappa 值范围为 0.61 至 0.89。在 Xp11.2/TFE3 RCC 的常规 US 和 CEUS 成像中，肿瘤呈低回声（6/18，33.3%）、等回声（8/18，44.4%）和高回声（4/18，22.2%）。5 例（27.8%）有囊性成分，9 例（50.0%）有钙化，7 例（38.9%）有彩色血流信号。大多数病例表现为同时灌注（11/18，61.1%）；峰值增强呈低增强（6/18，33.3%）、等增强（10/18，55.6%）和高增强（2/18，11.1%）；大多数病例表现为不均匀增强（12/18，66.7%）和快增强或同时增强（16/18，88.9%）；6 例（33.3%）有假包膜。多变量逻辑回归分析显示，钙化和较低的峰值增强更可能存在于 Xp11.2/TFE3 RCC 中，而不是 ccRCC 中（P<0.05），年龄较小和相对较高的峰值增强更可能存在于 Xp11.2/TFE3 RCC 中，而不是 pRCC 中（P<0.05）。钙化联合峰值增强模型将 Xp11.2/TFE3 RCC 与 ccRCC 区分开来，年龄联合峰值增强模型将 Xp11.2/TFE3 RCC 与 pRCC 区分开来，曲线下面积、敏感性和特异性分别为 0.896、94.4%和 73.3%、0.786、50.0%和 100.0%。
特定的 CEUS 特征结合人口统计学信息和临床症状，可能有助于将 Xp11.2/TFE3 RCC 与 ccRCC 和 pRCC 区分开来。
