Molecular Heterogeneity of Xp11.2 Translocation Renal Cell Carcinoma: The Correlation Between Split Signal Pattern in FISH and Prognosis

Xp11.2 translocation renal cell carcinoma (TRCC) is a rare and aggressive variant of renal cell carcinoma (RCC) when presenting in adults. We report a case of a man in his early 40s who was diagnosed with stage III Xp11.2 TRCC and underwent radical nephrectomy. Seven months following the surgery, an adrenal nodule and bilateral pulmonary nodules were discovered. He underwent cryoablation of the adrenal nodule and systemic treatment with daily pazopanib. He displayed stable disease for approximately 6 years. Following this period, multiple hospitalisations interrupted daily pazopanib therapy resulting in progression of disease. His regimen was then changed to ipilimumab and nivolumab, followed by current daily therapy with axitinib. The patient now shows stable disease in his 10th year after diagnosis. This case study demonstrates the efficacy of pazopanib for metastatic Xp11.2 TRCC and warrants further investigation to supplement the guidelines regarding the use of targeted therapy for TRCC.

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Renal cell carcinoma associated with Xp11.2 translocation arising in a horseshoe kidney

Pathology ◽

10.1080/00313020903071496 ◽

2009 ◽

Vol 41 (6) ◽

pp. 587-590

Author(s):

Maha Driss ◽

Alia Boukadi ◽

Lamia Charfi ◽

Wiem Douira ◽

Karima Mrad ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Horseshoe Kidney ◽

Xp11.2 Translocation

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PD46-05 INTRA-TUMOR MOLECULAR HETEROGENEITY OF CLEAR CELL RENAL CELL CARCINOMA SEEMS TO CONTRIBUTE TO THE DIVERSITY OF RESPONSE TO TARGETED THERAPIES

The Journal of Urology ◽

10.1016/j.juro.2018.02.2153 ◽

2018 ◽

Vol 199 (4S) ◽

Author(s):

Baoan Hong ◽

Yong Yang ◽

Sheng Guo ◽

Qixiang Li ◽

Ning Zhang ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Targeted Therapies ◽

Renal Cell ◽

Clear Cell ◽

Molecular Heterogeneity ◽

Cell Renal Cell Carcinoma

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Factors Associated with Survival From Xp11.2 Translocation Renal Cell Carcinoma Diagnosis—A Systematic Review and Pooled Analysis

Pathology & Oncology Research ◽

10.3389/pore.2021.610360 ◽

2021 ◽

Vol 27 ◽

Author(s):

Yuqing Wu ◽

Saisai Chen ◽

Minhao Zhang ◽

Kuangzheng Liu ◽

Jibo Jing ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Science Studies ◽

Cox Regression ◽

Pooled Analysis ◽

Factors Associated ◽

T Stage ◽

Multivariable Analyses ◽

Xp11.2 Translocation

Purpose: Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a rare subtype of renal cell carcinoma (RCC), characterized by translocations of Xp11.2 breakpoints, involving of the transcription factor three gene (TFE3). The aim of our study was to comprehensively characterize the clinical characteristics and outcomes, and to identify risk factors associated with OS and PFS in Xp11.2 tRCC patients.Methods: Literature search on Xp11.2 tRCC was performed using databases such as pubmed EMBASE and Web of Science. Studies were eligible if outcomes data (OS and/or PFS) were reported for patients with a histopathologically confirmed Xp11.2 tRCC. PFS and OS were evaluated using the univariable and multivariable Cox regression model.Results: There were 80 eligible publications, contributing 415 patients. In multivariable analyses, the T stage at presentation was significantly associated with PFS (HR: 3.87; 95% CI: 1.70 to 8.84; p = 0.001). The median time of PFS was 72 months. In the multivariable analyses, age at diagnosis (HR: 2.16; 95% CI: 1.03 to 4.50; p = 0.041), T stage at presentation (HR: 4.44; 95% CI: 2.16 to 9.09; p < 0.001) and metastasis status at presentation (HR: 2.67; 95% CI: 1.12 to 6.41; p = 0.027) were all associated with OS, with a median follow-up time of 198 months.Conclusion: T stage at presentation is the only factor that is associated with both PFS and OS in patients with Xp11.2 tRCC. Also, patients over 45 or with metastases are more likely to have poorer OS.

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

American Journal of Roentgenology ◽

10.2214/ajr.14.12950 ◽

2015 ◽

Vol 204 (3) ◽

pp. 542-549 ◽

Cited By ~ 12

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

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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 ◽

10.4081/rt.2009.e53 ◽

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.

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