scholarly journals Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion: A case report

2017 ◽  
Author(s):  
Xiang Pan ◽  
Jing Quan ◽  
Liwen Zhao ◽  
Wenhua Li ◽  
Benlin Wei ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Xp11.2 Translocation

scholarly journals Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features

2016 ◽  
Vol 06 (01) ◽  
pp. 19-25
Author(s):  
Takuji Tanaka ◽  
Kuniaki Hirai ◽  
Fumimasa Etori ◽  
Masashi Matsuyama ◽  
Naoki Watanabe ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Cytological Features ◽  
Xp11.2 Translocation

scholarly journals A Rare Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: Case Report of 8 Cases and Review of the Literature

2021 ◽  
Vol 5 (1) ◽  
pp. 30
Author(s):  
Mohammad Arman Hossain ◽  
Jannatul Maoya Bashanti ◽  
Xiaoyong Dong ◽  
Shun Gao ◽  
Hang Tong ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Review Of The Literature ◽  
Xp11.2 Translocation

scholarly journals Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion in the elderly: case report and literature review

2020 ◽  
Vol 9 (4) ◽  
pp. 182-186 ◽  
Author(s):  
Toshihiko Masago ◽  
Susumu Kobayakawa ◽  
Yuu Ohtani ◽  
Kenjirou Taniguchi ◽  
Takuji Naka ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Literature Review ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
The Elderly ◽  
Xp11.2 Translocation

Renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion: imaging findings in 21 patients

2016 ◽  
Vol 27 (2) ◽  
pp. 543-552 ◽  
Author(s):  
Xiao Chen ◽  
Qingqiang Zhu ◽  
Baoxin Li ◽  
Wenjing Cui ◽  
Hao Zhou ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Fusion Imaging ◽  
Imaging Findings ◽  
Xp11.2 Translocation

MDCT Findings of Renal Cell Carcinoma Associated With Xp11.2 Translocation and TFE3 Gene Fusion and Papillary Renal Cell Carcinoma

2015 ◽  
Vol 204 (3) ◽  
pp. 542-549 ◽  
Author(s):  
Sungmin Woo ◽  
Sang Youn Kim ◽  
Myoung Seok Lee ◽  
Kyung Chul Moon ◽  
See Hyung Kim ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Papillary Renal Cell Carcinoma ◽  
Xp11.2 Translocation

scholarly journals Temsirolimus in the treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion proteins: a case report and review of literature

Rare Tumors ◽  
2009 ◽  
Vol 1 (2) ◽  
pp. 164-166
Author(s):  
Jigarkumar Parikh ◽  
Teresa Coleman ◽  
Nidia Messias ◽  
James Brown
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Signaling Pathways ◽  
Renal Cell ◽  
Gene Fusion ◽  
Mammalian Target Of Rapamycin ◽  
World Health ◽  
Target Of Rapamycin ◽  
Tyrosine Kinase Receptor ◽  
Xp11.2 Translocation

Xp11.2 translocation renal cell carcinomas (TRCCs) are a rare family of tumors newly recognized by the World Health Organization (WHO) in 2004. These tumors result in the fusion of partner genes to the TFE3 gene located on Xp11.2. They are most common in the pediatric population, but have been recently implicated in adult renal cell carcinoma (RCC) presenting at an early age. TFE3-mediated direct transcriptional upregulation of the Met tyrosine kinase receptor triggers dramatic activation of downstream signaling pathways including the protein kinase B (Akt)/phosphatidylinositol-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) pathways. Temsirolimus is an inhibitor of mammalian target of rapamycin (mTOR) kinase, a component of intracellular signaling pathways involved in the growth and proliferation of malignant cells. Here we present a case of a 22-year old female who has been treated with temsirolimus for her Xp11.2/ TFE3 gene fusion RCC.

scholarly journals Adult-onset renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

Medicine ◽  
2018 ◽  
Vol 97 (24) ◽  
pp. e11023 ◽  
Author(s):  
Pengfeng Gong ◽  
Qianfeng Zhuang ◽  
Kun Wang ◽  
Renfang Xu ◽  
Yiming Chen ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Adult Onset ◽  
Xp11.2 Translocation

scholarly journals Contrast-enhanced ultrasound findings of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Shuping Wei ◽  
Fuli Tian ◽  
Qiuyuan Xia ◽  
Pengfei Huang ◽  
Yidan Zhang ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Gene Fusion ◽  
Clear Cell ◽  
Contrast Enhanced Ultrasound ◽  
Peak Enhancement ◽  
Contrast Enhanced ◽  
Cystic Component ◽  
Xp11.2 Translocation

Abstract Background 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). Methods 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. Results 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. Conclusions The specific CEUS features combined with demographic information and clinical symptoms may be helpful for differentiating Xp11.2/TFE3 RCC from ccRCC and pRCC.

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