A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma

Taşkınlar, Hakan; Avlan, Dinçer; Çıtak, Çağlar; Polat, Ayşe; Naycı, Ali

doi:10.5489/cuaj.2321

CUAJ

2015

DOI: 10.5489/cuaj.2321

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A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma

Hakan Taşkınlar

Dinçer Avlan

Çağlar Çıtak

et al.

Abstract: Original research E36Cite as: Can Urol Assoc J 2015;9(1-2):E36-8. http://dx.doi.org/10.5489/cuaj.2321 Published online January 12, 2015. AbstractPediatric renal cysts are rare, usually asymptomatic and incidentally detected in children. Cyst associated renal cell carcinoma (RCC) or cystic RCC is extremely rare in children. Bosniak classification system has been accepted for the management of cystic renal masses. Xp11.2 translocation RCC is a recently classified distinct subtype and usually affects children and… Show more

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“…1 The authors have highlighted a very interesting case of complicated renal Bosniak IV cyst which turned out to be Xp11.2 translocation RCC. We wish to supplement few important computed tomographic (CT) imaging features which can predict this morphological subtype of RCC.…”

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confidence: 99%

Imaging hallmark of Xp11.2 translocation renal cell carcinoma

Sureka

Bansal

Arora

2015

CUAJ

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Cite as: Can Urol Assoc J 2015;9(7-8):E572. http://dx.doi.org/10.5489/cuaj.2817 Published online August 10, 2015.W e read with great interest the recent case report on Xp 11.2 translocation renal cell carcinoma (RCC) by Taşkınlar and colleagues. 1 The authors have highlighted a very interesting case of complicated renal Bosniak IV cyst which turned out to be Xp11.2 translocation RCC. We wish to supplement few important computed tomographic (CT) imaging features which can predict this morphological subtype of RCC.The World Health Organization has classified RCC associated with Xp11.2 translocation and TFE3 gene fusion (Xp11RCC) as a separate entity.2 Both Xp11.2 translocation RCC and papillary RCC are hypovascular tumours and can be solid, mixed solid and cystic, and predominantly cystic. Recently, Woo and colleagues, 3 in their 19 histopathologically cases of Xp11 RCC, found pointers for differentiating Xp11 RCC from papillary RCC: presentation in children and young adults, female gender, larger tumour size, cystic and necrotic changes, calcification, high-attenuating areas than the renal cortex on non-contrast scans, aggressive behaviour of lymph node, and distant metastasis.We hope that supplementing these imaging features will help urologists and their fellow radiologists and pathologists (appropriate immunohistochemical staining) in making preoperative diagnosis of this rare renal tumour. Competing interests:The authors all declare no competing financial or personal interests. This paper has been peer-reviewed. Letters are published at the discretion of the editors, and are subject to abridgement and editing for style and content. Letters can be sent to the Editor at journal@cua.org.

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mentioning

confidence: 99%

Imaging hallmark of Xp11.2 translocation renal cell carcinoma

Sureka

Bansal

Arora

2015

CUAJ

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Una masa renal poco común en una adolescente – presentación de caso y revisión de la literatura

2019

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Introducción Las neoplasias renales en la población pediátrica y adolescente son raras, entre el 6% y el 7% de las masas en pediatría. En adolescentes plantea un desafío clínico importante. Presentan variables manifestaciones sistémicas inespecíficas o cuadros asintomáticos. En la literatura se han identificado el Carcinoma de Células Renales y el Tumor de Wilms como las masas renales más prevalentes en menores de 20 años, el Adenoma Metanéfrico es una entidad muy poco común en esa población. Presentación de caso Adolescente, con dolor en flanco izquierdo y hematuria macroscópica monosintomática, estudios imagenológicos evidencian lesión de aspecto neoplásico renal izquierda, que al complementarse con estudios de inmunohistoquímica resulta en Adenoma Metanéfrico. Se realiza revisión de literatura publicada en las últimas tres décadas al respecto. La paciente es llevada a nefrectomía radical izquierda, y posteriormente el estudio anatomopatológico sugiere Adenoma Metanéfrico, con marcadores de inmunohistoquímica que corroboran el hallazgo. Conclusiones Los tumores renales en adolescentes son raros. Se requiere de alta sospecha clínica, un examen físico meticuloso y el apoyo en imágenes diagnósticas. Generalmente, el estudio histopatológico determina el diagnóstico definitivo, no obstante, cuando persiste la confusión, se recurre a la inmunohistoquímica. El Carcinoma de Células Renales es el más prevalente de los tumores renales en adolescentes, pero existen entidades indistinguibles al estudio imagenológico que plantean un desafío clínico; es el objetivo brindar una herramienta de apoyo en el abordaje del Adenoma metanéfrico e instar al desarrollo de conocimiento sobre una entidad patológica en ese grupo etario que ha sido poco documentado que indudablemente redundará en mejores prácticas e impacto científico, social y económico.

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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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A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma

Cited by 3 publications

References 16 publications

Imaging hallmark of Xp11.2 translocation renal cell carcinoma

Imaging hallmark of Xp11.2 translocation renal cell carcinoma

Una masa renal poco común en una adolescente – presentación de caso y revisión de la literatura

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

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