The multislice CT findings of renal carcinoma associated with XP11.2 translocation/TFE gene fusion and collecting duct carcinoma.

The multislice CT findings of renal carcinoma associated with XP11.2 translocation/TFE gene fusion and collecting duct carcinoma. Acta Radiol. 2013 Feb 27; Authors: Zhu QQ, Wang ZQ, Zhu WR, Chen WX, Wu JT Abstract BackgroundRenal cell carcinoma associated with Xp11.2 translocation and TFE gene fusion (Xp11.2/TFE RCC), and collecting duct carcinoma (CDC) are uncommon subtypes of renal cell carcinomas.PurposeTo investigate the multislice CT (MSCT) characteristics of these two tumor types.Material and MethodsNine patients with Xp11.2/TFE RCC and 10 patients with CDC were studied retrospectively. MSCT was undertaken to investigate differences in tumor characteristics and enhancement patterns.ResultsAll patients had single tumors centered in the renal medulla. Two patients with each tumor type had lymph node involvement and there was a single case of hepatic metastasis (Xp11.2/TFE RCC). The mean tumor diameter of Xp11.2/TFE RCC tumors was significantly larger than for CDC tumors. Two patients with Xp11.2/TFE RCC had cystic components as did eight patients with CDC (P
Source: Acta Radiologica - Category: Radiology Authors: Tags: Acta Radiol Source Type: research

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Molecular characterization has led to advances in the understanding of pediatric renal tumors, including the association of pediatric cystic nephromas with DICER1 tumor syndrome, the metanephric family of tumors with somatic BRAF mutations, the characterization of ETV6-NTRK3 –negative congenital mesoblastic nephromas, the expanded spectrum of gene fusions in translocation renal cell carcinoma, the relationship of clear cell sarcoma of the kidney with other BCOR-altered tumors, and the pathways affected by SMARCB1 alterations in rhabdoid tumors of the kidney. These adv ances have implications for diagnosis, classifica...
Source: Surgical Pathology Clinics - Category: Pathology Authors: Source Type: research
In conclusion, our findings indicated a major role of PRCC-TFE3 fusion-mediated mitophagy and mitochondrial biogenesis in promoting proliferation of PRCC-TFE3 tRCC. PMID: 33019842 [PubMed - as supplied by publisher]
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
Publication date: November 2020Source: Urology Case Reports, Volume 33Author(s): Alexandre Fligelman Kanas, Marcello Silveira Rovella, Mauricio Ruettimann Liberato de Moura, Katia Ramos Moreira Leite, Miguel Srougi, Marcos Roberto de Menezes
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: Available online 31 August 2020Source: Biochimica et Biophysica Acta (BBA) - General SubjectsAuthor(s): Neha, Parimal Das, Shiv Prakash Verma
Source: Biochimica et Biophysica Acta (BBA) General Subjects - Category: Biochemistry Source Type: research
Xp11.2 translocation renal cell carcinoma (tRCC) is recently recognized. As Xp11.2 tRCC involved gene translocation and fusion in X chromosome and the number of X chromosomes in female is twice of male, we won...
Source: BMC Urology - Category: Urology & Nephrology Authors: Tags: Research article Source Type: research
AbstractAlveolar soft part sarcoma (ASPS) is a rare soft tissue tumor of unknown histogenesis generally characterized by the der(17)t(X;17)(p11.2;q25) translocation which results in theASPSCR1-TFE3 gene fusion. Primary ASPS of the thyroid gland has not yet been reported. During oncology follow-up for breast cancer, a pulmonary nodule and thyroid gland mass  were identified in a 71-year-old Korean male. Thyroid ultrasound showed a 5.7 cm left thyroid gland mass. After several fine needle aspirations, a thyroid gland lobectomy was performed after documenting only non-caseating granulomatous inflammation in a biopsy...
Source: Head and Neck Pathology - Category: Pathology Source Type: research
AbstractA 68-year-old man was followed up with chronic kidney disease. Follow-up CT incidentally detected a tumor at the left kidney and multiple small nodular shadows in the lungs bilaterally. The patient underwent needle biopsy and was diagnosed with Xp11.2 translocation renal cell carcinoma (RCC) pathologically. Hence, laparoscopic nephrectomy was performed. Fluorescence in situ hybridization analysis revealed a break-apart of the transcription factor E3 (TFE3) genes in the left tumor. After 2  months postoperatively, nivolumab and ipilimumab were administered thrice intravenously, considering the intermediate risk...
Source: International Cancer Conference Journal - Category: Cancer & Oncology Source Type: research
Renal cell carcinoma (RCC) subtypes are increasingly being discerned via their molecular underpinnings. Frequently this can be correlated to histologic and immunohistochemical surrogates, such that only simple targeted molecular assays, or none at all, are needed for diagnostic confirmation. In clear cell RCC, VHL mutation and 3p loss are well known; however, other genes with emerging important roles include SETD2, BAP1, and PBRM1, among others. Papillary RCC type 2 is now known to include likely several different molecular entities, such as fumarate hydratase (FH) deficient RCC. In MIT family translocation RCC, an increas...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Special Articles Source Type: research
Our study describes a 33-year old male diagnosed with bilateral clear cell renal cell carcinoma (ccRCC) (8 primary tumors) who harbors a de novo constitutional Palindromic Adenine and Thymine Rich Repeat (PATRR)- mediated t(3;8) balanced translocation validated by spectral karyotyping. No germline or somatic pathogenic alterations were detected in VHL gene suggesting that his phenotype is not associated with Von Hippel-Lindau syndrome. Of note, there is no history of cancer in the family. We determined the chromosome 3 breakpoint to be located in an AT-rich palindromic sequence in the third intron of FHIT gene, member of t...
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
AbstractWe herein describe soft tissue tumor arising in the lower extremity of a pediatric patient. The tumor displayed a unique and wide range of histological features, sheet-like and cohesive growth pattern consisting of enlarged round to epithelioid atypical cells with a large alveolar and pseudopapillary histological architecture, focally mimicking alveolar soft part sarcoma and MiT family translocation renal cell carcinoma. Tumor cells were focally immunoreactive for cytokeratin, S-100, and EMA. RNA sequencing identified a novel in-frameNR1D1 (exon 5)-MAML1 (exon 2) gene rearrangement resulting in the formation of a p...
Source: Virchows Archiv - Category: Pathology Source Type: research
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