YAP1‐TFE3 Gene Fusion Variant in Clear Cell Stromal Tumor of Lung: Report of Two Cases in Support of a Distinct Entity

2021 ◽  
Author(s):  
Josephine K. Dermawan ◽  
Elizabeth M. Azzato ◽  
Jesse K. McKenney ◽  
Bernadette Liegl‐Atzwanger ◽  
Brian P. Rubin
Keyword(s):  
Gene Fusion ◽  
Clear Cell ◽  
Stromal Tumor ◽  
Distinct Entity

Activation of human telomerase reverse transcriptase through gene fusion in clear cell sarcoma of the kidney

2015 ◽  
Vol 357 (2) ◽  
pp. 498-501 ◽  
Author(s):  
Jenny Karlsson ◽  
Henrik Lilljebjörn ◽  
Linda Holmquist Mengelbier ◽  
Anders Valind ◽  
Marianne Rissler ◽  
...  
Keyword(s):  
Reverse Transcriptase ◽  
Gene Fusion ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Telomerase Reverse Transcriptase ◽  
Human Telomerase Reverse Transcriptase ◽  
Cell Sarcoma ◽  
Human Telomerase

scholarly journals Simultaneous renal clear cell carcinoma and gastrointestinal stromal tumor in one case

2013 ◽  
Vol 5 (2) ◽  
pp. 122 ◽  
Author(s):  
Han-Zhong Li ◽  
ZhiGang Ji ◽  
BingBing Shi ◽  
Wei Gang-Yan ◽  
Jin Wen
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Renal Clear Cell Carcinoma ◽  
Stromal Tumor

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.

scholarly journals A Review of Translocation T(6;11) Renal Cell Carcinoma Tumors in the Adult Patient

2016 ◽  
Vol 10 (2) ◽  
pp. 69-71 ◽  
Author(s):  
Paulette Cutruzzula ◽  
David Cahn ◽  
Dana Kivlin ◽  
Carmen Tong ◽  
Daniel Edwards ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Adult Patient ◽  
Cell Carcinoma ◽  
Rare Variant ◽  
Renal Cell ◽  
Gene Fusion ◽  
Clear Cell ◽  
Adult Population ◽  
Histological Findings ◽  
True Nature

Historically, T(6;11) renal cell carcinoma (RCC) has been associated with the pediatric and adolescent populations and documentation of this tumor in adults has been rare. However, the frequency of translocation renal cell carcinoma (TRCC) may be widely underestimated in the adult population due to an inadequate immunohistochemical workup or misdiagnosis from similar gross and histological findings to other RCC. A subset of MiT family translocation carcinomas, t(6:11) (p21;q12) translocation tumors cause an alpha-TFEB gene fusion. Morphologically, this neoplasm tends to mimic the various types of RCC's, including clear cell, papillary, and even epitheloid angiomyolipomas. Adult cases of TRCC have shown to behave more aggressively than their indolent pediatric counterpart, but due to the limited number of reported cases the true nature of these tumors has yet to be determined. The aim of this review is to bring an awareness of translocation RCC to better understand its diagnoses, treatment and prognosis, and, in turn, to allow for new cases to further highlight the behavior of this rare variant.

Clear Cell Sarcoma of the Kidney in Children: A Distinct Entity

1982 ◽  
Vol 127 (2) ◽  
pp. 402-403
Author(s):  
M. Carcassone ◽  
C. Raybaud ◽  
G. Lebreuil
Keyword(s):  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Distinct Entity ◽  
Cell Sarcoma

EWS-CREB 1: A Novel Variant Gene Fusion Transcript in Clear Cell Sarcoma of the Ileum

2007 ◽  
Vol 102 ◽  
pp. S287
Author(s):  
Venkata Yalamanchili ◽  
Melham Solh ◽  
Doina David ◽  
Geetha Krishnamoorthy
Keyword(s):  
Gene Fusion ◽  
Clear Cell ◽  
Fusion Transcript ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Variant Gene ◽  
Novel Variant

Hemangioblastoma-like Clear Cell Stromal Tumor of the Lung

2013 ◽  
Vol 20 (2) ◽  
pp. 130-135 ◽  
Author(s):  
Giovanni Falconieri ◽  
Maurizio Mirra ◽  
Michal Michal ◽  
Saul Suster
Keyword(s):  
Clear Cell ◽  
Stromal Tumor

Recurrent YAP1-TFE3 Gene Fusions in Clear Cell Stromal Tumor of the Lung

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Abbas Agaimy ◽  
Robert Stoehr ◽  
Michael Michal ◽  
Petros Christopoulos ◽  
Hauke Winter ◽  
...  
Keyword(s):  
Clear Cell ◽  
Stromal Tumor ◽  
Gene Fusions
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