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

Pan, Xiang; Quan, Jing; Zhao, Liwen; Li, Wenhua; Wei, Benlin; Yang, Shangqi; Lai, Yongqing

doi:10.3892/mco.2017.1497

Cited by 3 publications

(3 citation statements)

References 22 publications

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“…ii) DNp73, a subtype of p73, is involved in the proliferation, metastasis, and invasion of tumor cells, mainly by stimulating the expression of Cola1 and PAI-1 receptors in the TGF-β signaling pathway (25). Certain relations between the occurrence, development, and prognosis of various malignant tumors and the p73 are recognized (26,27).…”

Section: Discussionmentioning

confidence: 99%

Expression and clinical significance of p73 in Wilms' tumor in children

Ding

Liu

et al. 2019

Oncol Lett

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Expression and clinical significance of p73 in children with Wilms tumor (WT) were investigated. A retrospective analysis was carried out on 50 children diagnosed with WT in the People's Hospital of Rizhao, from July 2013 to January 2015 (study group), and 20 healthy children with similar age and sex who received health examinations in the same hospital during the same period (control group). The relative expression of p73 mRNA in the peripheral blood of each group was detected by reverse transcription-quantitative PCR (RT-qPCR) in order to study the association between p73 and the clinicopathological parameters of WT, as well as the impact of p73 on the patient prognosis. The two groups were not statistically different in respect to the clinical data of patients (P>0.05); the expression level of p73 in the blood samples of the study group was significantly higher than that of the control group (t=11.44, P<0.01); the expression of p73 in the study group was associated with factors, including tumor size, pathological type and lymphatic metastasis. Considering the mean value of the expression of p73 (3.32) as the boundary, the patients with expression value of p73 <3.32 were studied as the low-expression group, and patients with expression value of p73 >3.32 comprised the high-expression group. At the end of the follow-up, the median survival time and the survival rate of the patients in the high-expression group were significantly lower than those of the low-expression group (P<0.05). The high expression of p73 in the peripheral blood of children with WT was positively correlated with the clinical stage of the tumor, and was closely related with the low survival rate of patients.

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Section: Discussionmentioning

confidence: 99%

Expression and clinical significance of p73 in Wilms' tumor in children

Ding

Liu

et al. 2019

Oncol Lett

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“…This rare variant of RCC is more frequently diagnosed in pediatric patients and rarely in adults, with women having a slightly higher incidence than men [ 4 ]. The prevalence of Xp 11.2 TRCC is 20-40% among pediatric renal tumors, whereas in the adult population, a low prevalence of only 1-1.6% is noted [ 5 ]. Exact data on the prognosis of this rare carcinoma are yet to be known; however, cases diagnosed in children with isolated lymph node metastasis have a comparatively favorable outcome [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Xp11.2 Translocation Renal Cell Carcinoma: A Rare Renal Cell Carcinoma

Kalita¹,

Dey²,

Saurabh³

et al. 2023

Cureus

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Translocation-associated renal cell carcinoma (TRCC) is a group of under-recognized malignant renal neoplasms owing to the unavailability of ancillary diagnostic tools and considering the fact that these tumors may histomorphologically mimic a heterogeneous group of neoplasms ranging from benign to malignant ones. Xp11.2 translocation-associated renal cell carcinoma is a disease of the young with a relatively less known prognosis owing to the rarity of such reported neoplasms. The histological appearance of bulbous tumor cells with abundant, vacuolated cytoplasm and the presence of psammomatoid bodies are clues to the diagnosis but are not entirely specific. The immunohistochemistry (IHC) finding of transcription factor E3 (TFE3) positivity is an important pointer, but the demonstration of Xp11.2 translocation by fluorescence in situ hybridization (FISH) serves as the confirmatory test. In our case report, we highlight the fact that a combined approach involving light microscopy, immunohistochemistry, and fluorescence in situ hybridization is the key to its diagnosis.

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“…Patient and Tumor Characteristics at Xp11.2 tRCC Diagnosis.Cox Analyses for PFS and OS for Patients in Larger SeriesFor studies including more than 12 patients, a separate analysis was conducted, involving 11 studies with 218 patients[24,25,37,52,55,59,61,67,72,74,80]. In multivariable analyses, the T stage at presentation was significantly associated with PFS (HR: 7.73; 95% CI: 3.09 to 19.33; p < 0.001; Supplementary Appendix Table1).…”

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confidence: 99%

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

Wu¹,

Chen²,

Zhang³

et al. 2021

Pathol. Oncol. Res.

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

Cited by 3 publications

References 22 publications

Expression and clinical significance of p73 in Wilms' tumor in children

Expression and clinical significance of p73 in Wilms' tumor in children

Xp11.2 Translocation Renal Cell Carcinoma: A Rare Renal Cell Carcinoma

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

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