A Rare Partner of TFE3 in the Xp11 Translocation Renal Cell Carcinoma: Clinicopathological Analyses and Detection of MED15-TFE3 Fusion.

A Rare Partner of TFE3 in the Xp11 Translocation Renal Cell Carcinoma: Clinicopathological Analyses and Detection of MED15-TFE3 Fusion. Biomed Res Int. 2019;2019:5974089 Authors: Ye H, Qin S, Li N, Lin M, Xu Y, Li X Abstract Xp11 translocation renal cell carcinoma (RCC), a member of the microphthalmia-associated transcription factor (MiTF) family, is a rare renal tumor characterized by different translocations involving the TFE3 gene. Here, we reported a case of Xp11 translocation RCC with a rare MED15-TFE3 gene fusion by RNA sequencing. Morphologically, the tumor cells were arranged in a solid and small nest pattern. The cytoplasm was voluminous, flocculent eosinophilic, and vacuolated. The nuclei were round or polygon with fine granular chromatin, and the nucleoli were unconspicuous. Psammoma bodies were observed in mesenchyma. Immunohistochemically, the tumor cells were diffuse moderately or strongly positive for CD10, P504S, vimentin, PAX8, RCC, AE1/AE3, and SDHB and focally positive for CK7 and CA IX while negative for cathepsin K, HMB45, Melan-A, Ksp-cadherin, and CD117. The Ki67 proliferation index was approximately 3%. However, TFE3 labeling showed an uncertainly weak nuclear staining and been considered negative. Fluorescence in situ hybridization (FISH) demonstrated a positive result that splits signals with a distance of> 2 signal diameters. Subsequently, RNA sequencing confirmed a fusion of MED15 gene exon 11 on chromosome 22 with TFE3 gen...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research

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CONCLUSIONS: A range of newly accepted and emerging renal cell carcinoma entities have been introduced in the 2016 WHO classification. A precise and correct diagnosis is of major importance regarding the prognostic assessment, potential new therapeutic strategies and possible hereditary associations. PMID: 31974661 [PubMed - as supplied by publisher]
Source: Der Urologe. Ausg. A - Category: Urology & Nephrology Authors: Tags: Urologe A Source Type: research
e;n D, Bajory Z, Kulka J, Iványi B Abstract Xp11.2 translocation carcinoma is a distinct subtype of renal cell carcinoma characterized by translocations involving the TFE3 gene. Our study included the morphological, immunohistochemical and clinicopathological examination of 28 Xp11.2 RCCs. The immunophenotype has been assessed by using CA9, CK7, CD10, AMACR, MelanA, HMB45, Cathepsin K and TFE3 immunostainings. The diagnosis was confirmed by TFE3 break-apart FISH in 25 cases. The ages of 13 male and 15 female patients, without underlying renal disease or having undergone chemotherapy ranged from 8 to 72. The...
Source: Pathology Oncology Research - Category: Pathology Authors: Tags: Pathol Oncol Res Source Type: research
Conclusion: In this patient cohort, pazopanib was associated with inferior OS in comparison with sunitinib for metastatic nccRCC. Larger trials are ideally warranted to confirm these results. PMID: 31921344 [PubMed]
Source: Ecancermedicalscience - Category: Cancer & Oncology Tags: Ecancermedicalscience Source Type: research
To investigate the contrast-enhanced ultrasound (CEUS) findings of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) in adult patients by comparison with those of c...
Source: Cancer Imaging - Category: Radiology Authors: Tags: Research article Source Type: research
Authors: Liu Y, Zheng Q, Wang C, Wang J, Ming J, Zhang Y, Li X, Cho WC, Wang L, Li QC, Qiu XS, Wang EH Abstract Transcription factor E3 (TFE3) is a useful marker for tumors with Xp11.2 translocation, including alveolar soft part sarcoma and renal cell carcinoma. Recently, TFE3 overexpression was also found in granular cell tumors (GrCTs). However, the case cohorts of these two studies were limited to only 11 and 6 cases. Whether aberrant TFE3 expression is a common feature of Asian patients with GrCT requires further investigation. In the present study, immunohistochemical staining and TFE3 break-apart fluorescence...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Angiopoietin-like protein 2 (ANGPTL2) is a secreted glycoprotein homologous to angiopoietins. Previous studies suggest that tumor cell-derived ANGPTL2 has tumor-promoting function. Here, we conducted mechanistic analysis comparing ANGPTL2 function in cancer progression in a murine syngeneic model of melanoma and a mouse model of translocation renal cell carcinoma (tRCC). ANGPTL2 deficiency in tumor cells slowed tRCC progression, supporting a tumor-promoting role. However, systemic ablation of ANGPTL2 accelerated tRCC progression, supporting a tumor-suppressing role. The syngeneic model also demonstrated a tumor-suppressing...
Source: Genes and Development - Category: Genetics & Stem Cells Authors: Tags: Research Papers Source Type: research
Clauditz TS Abstract BACKGROUND AND METHODS: 8p deletions are common in renal cell carcinoma. To study their prognostic impact and association with kidney cancer phenotype, a tissue microarray with 1,809 cancers was analyzed by fluorescence in situ hybridization for 8p21 copy numbers. RESULTS: One thousand four hundred and seventy four interpretable tumors showed substantial differences between renal cancer subtypes. That 8p deletion was only seen in 1 (0.5%) of 216 papillary carcinomas underscores the biologic uniqueness of papillary kidney cancer, which is also defined by a highly distinct morphology. 8p de...
Source: Urologic Oncology - Category: Urology & Nephrology Authors: Tags: Urol Oncol Source Type: research
Translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) is a rare subtype of adult renal cell carcinoma (RCC) reported in recent years. It was recognized as a group of emerging /provisional RCC ...
Source: Diagnostic Pathology - Category: Pathology Authors: Tags: Case Report Source Type: research
CONCLUSION: Nivolumab demonstrated activity in unclassified nccRCC and ccRCC with>20% rhabdoid; further randomized clinical trials are warranted. IMPLICATIONS FOR PRACTICE: This article reports on the clinical activity and safety of immune checkpoint inhibitors in non-clear cell kidney cancer. The retrospective data with the meta-analysis provides a summary that will help guide the treatment of this rare and heterogeneous group of kidney cancers. PMID: 31501271 [PubMed - as supplied by publisher]
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
Authors: Gandhi JS, Malik F, Amin MB, Argani P, Bahrami A Abstract Microphthalmia (MiT) family translocation renal cell carcinomas (RCCs) are a heterogeneous category of renal tumors which all express MiT transcription factors, typically from chromosomal translocation and rarely from gene amplification. This tumor family has two major subtypes [i.e., Xp11 translocation RCC and t(6;11) RCC] and several related neoplasms (i.e., TFEB amplification RCC and melanotic Xp11 translocation renal cancers). Increased understanding of the clinical, pathological, molecular and prognostic heterogeneity of these tumors, since the...
Source: Histology and Histopathology - Category: Cytology Tags: Histol Histopathol Source Type: research
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