Clinical heterogeneity of Xp11 translocation renal cell carcinoma

Impact of fusion subtype, age, and stage12/09/2013
Source: Kidney Cancer Association - Category: Cancer & Oncology Source Type: news

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ConclusionProper differentiation of RCCs related to translocation of MiT family requires immunostaining for TFE3, especially in the case of younger patients, among which the prevalence of this genetic mutation is frequent.
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
Xp11.2 translocation renal cell carcinoma (tRCC) is mainly caused by translocation of the TFE3 gene located on chromosome Xp11.2 and is characterized by overexpression of the TFE3 fusion gene. Patients are dia...
Source: Journal of Experimental and Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Research Source Type: research
This study aims to evaluate the frequency of RCC with Xp11.2 in a subset of Saudi adult patients with RCC. 112 RCCs diagnosed in 1995-2016 were retrieved from the Department of Pathology at King Abdulaziz University and King and Faisal Specialist Hospital and Research Centre, Saudi Arabia. Tissue microarrays were constructed and TFE3 immunostaining was performed. TFE3 immunostaining was considered positive when diffuse strong nuclear immunostaining was detected. TFE3 immunostaining-positive tumours were confirmed by fluorescence in situ hybridisation. 4.5% of RCCs were shown to be Xp11.2 RCC by TFE3 immunostaining. TFE3-po...
Source: Polish Journal of Pathology - Category: Pathology Tags: Pol J Pathol Source Type: research
AbstractThe 2016 WHO Classification of Tumors of the Urinary System recognizes microphthalmia transcription factor (MiT) family translocation carcinomas as a separate entity among renal cell carcinomas. TFE3 and transcription factor EB (TFEB) are members of the MiT family for which chromosomal rearrangements have been associated with renal cell carcinoma formation. TFEB translocation renal cell carcinoma is a rare tumor harboring a t(6;11)(p21;q12) translocation. Recently, renal cell carcinomas with TFEB amplification have been identified. TFEB amplified renal cell carcinomas have to be distinguished from TFEB-translocated...
Source: Virchows Archiv - Category: Pathology Source Type: research
ConclusionsMITF family tRCC is an aggressive disease with similar responses to ICIs as clear-cell RCC. Mutations in bromodomain-containing genes might be associated with clinical benefit. The unexpected observation about parallel evolution of genes involved in O-glycosylation as a mechanism of resistance to ICI warrants exploration.
Source: Journal for Immunotherapy of Cancer - Category: Cancer & Oncology Source Type: research
ConclusionThe findings from the study suggested that there were pathological differences in multifocal renal tumors, and that papillary carcinoma may be more common than clear cell carcinoma. The recurrence rate and survival rate of multifocal RCC were similar to monofocal tumors. Tumor recurrence may be related to satellite tumor nodules, which can only be detected once surgery is performed.
Source: Clinical and Translational Oncology - Category: Cancer & Oncology Source Type: research
Abstract PURPOSE: Translocation renal cell carcinoma (tRCC) represents a rare subtype of kidney cancer associated with various TFE3, TFEB, or MITF gene fusions that is not responsive to standard treatments for RCC. Therefore, the identification of new therapeutic targets represents an unmet need for this disease. EXPERIMENTAL DESIGN: We have established and characterized a tRCC patient-derived xenograft (PDX), RP-R07, as a novel preclinical model for drug development by using next generation sequencing and bioinformatics analysis. We then assessed the therapeutic potential of inhibiting the identified pathway...
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
ConclusionsWe present tumor size-based estimates of the probability of aggressive histology for renal masses. This information should be useful for initial patient counseling and management.Patient summaryActive surveillance is an option for kidney masses, even if they are malignant. Beyond knowing whether the mass is benign or cancer, it is important to know whether or not it is an aggressive tumor. This study presents tumor size-specific and sex-specific estimates of the probability of cancer overall and aggressive cancer among patients with a kidney mass in order to aid with initial decision-making.
Source: European Urology - Category: Urology & Nephrology Source Type: research
Translocation renal cell carcinomas (tRCC) represent 1-5% of all RCCs and are associated with aggressive disease and poor outcomes. tRCCs uniformly contain gene fusions of either transcription factor E3 (TFE3) or transcription factor EB (TFEB) with various partners, or rarely, TFEB amplification. However, given the rarity of these tumors, much remains unknown about other important genomic drivers of this disease.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Kidney Cancer: Epidemiology & Evaluation/Staging I Source Type: research
Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a newly defined subset of RCC which is characterized by various translocations involving chromosome Xp11.2. All the Xp11.2 translocations produce chimeric TFE3 genes, which retain the coding sequences for the basic helix-loop-helix leucine zipper structure (bHLH-Zip) through which TFE3 binds to DNA. It is suggested that the TFE3 fusion proteins encoded by the chimeric TFE3 genes work as constitutively active transcription factors resulting in Xp11.2 tRCC development.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Kidney Cancer: Basic Research & Pathophysiology I Source Type: research
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