|
Renal Cell Carcinoma
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The last 30 years of research in renal cell carcinoma (RCC) has revealed that the vast majority of RCC histologies share a recurrent pattern of mutations to metabolic genes, including VHL, MTOR, ELOC, TSC1/2, FH, SDH, and mitochondrial DNA.
|
31155438 |
2019 |
|
Renal Cell Carcinoma
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
This descriptive study, although small, demonstrates the difficulty in applying the current World Health Organization provisional criteria at a single institution with suggestion of an immunohistochemcial panel that may assist in the diagnosis of TCEB1-mutated RCC with leiomyomatous stroma.
|
30986793 |
2019 |
|
Renal Cell Carcinoma
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
We conclude that there exists a group of RCCs with abundant leiomyomatous stroma, where the epithelial component is indistinguishable from conventional clear cell RCC and distinct from clear cell (tubulo-) papillary RCC and that these tumors lack aberrations related to the function of the VHL gene, mutations in genes involved in angiogenesis, and hotspot mutations in the TCEB1 gene.
|
29084058 |
2018 |
|
Renal Cell Carcinoma
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Of the remaining, 6 had other clear cell renal cell carcinoma-associated gene alterations (PBRM1, SMARCA4, BAP1, SETD2), leaving 11 specimens, including 2 high-grade or sarcomatoid renal cell carcinomas and 2 with prominent fibromuscular stroma (not TCEB1 mutant).
|
28731045 |
2017 |
|
Renal Cell Carcinoma
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Renal Cell Carcinoma
|
0.460 |
Biomarker
|
disease |
BEFREE |
The currently recognized 2016 World Health Organization classification for RCC subtypes is briefly discussed, including new diagnostic entities (clear cell papillary RCC, hereditary leiomyomatosis and RCC-associated RCC, succinate dehydrogenase-deficient RCC, tubulocystic RCC, and acquired cystic disease-associated RCC) and areas of evolving RCC classification, such as transcription elongation factor B subunit 1 (TCEB1)-mutated RCC/RCC with angioleiomyoma-like stroma/RCC with leiomyomatous stroma, RCC associated with anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangement, thyroidlike follicular RCC, and RCC in neuroblastoma survivors.
|
27684973 |
2016 |
|
Renal Cell Carcinoma
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
In sum, TCEB1-mutated renal cell carcinoma is a distinct entity with recurrent hotspot mutations, specific copy number alterations, pathway activation, and characteristic morphological features.
|
25676555 |
2015 |
|
Renal Cell Carcinoma
|
0.460 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
This descriptive study, although small, demonstrates the difficulty in applying the current World Health Organization provisional criteria at a single institution with suggestion of an immunohistochemcial panel that may assist in the diagnosis of TCEB1-mutated RCC with leiomyomatous stroma.
|
30986793 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Importantly, recent molecular analyses suggest the existence of another 'VHL wild-type' evolutionary subtype of clear cell RCC in addition to TCEB1 mutated RCC and clear cell papillary renal cancer.
|
30565303 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
The last 30 years of research in renal cell carcinoma (RCC) has revealed that the vast majority of RCC histologies share a recurrent pattern of mutations to metabolic genes, including VHL, MTOR, ELOC, TSC1/2, FH, SDH, and mitochondrial DNA.
|
31155438 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Nine could be reclassified as distinct or emerging entities: translocation renal cell carcinoma (n=3), TCEB1 mutant renal cell carcinoma (n=3), papillary renal cell carcinoma (n=2), and clear cell papillary renal cell carcinoma (n=1).
|
28731045 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
AlteredExpression
|
disease |
BEFREE |
Therefore, we focused on four VHL missense mutations, which affect the overlapping pVHL binding sites of p53 and Elongin C, by investigating their impact on HIFα degradation, p53 expression and signaling, as well as on cellular behavior using ccRCC cell lines and tissues.
|
28052007 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
Biomarker
|
disease |
BEFREE |
The currently recognized 2016 World Health Organization classification for RCC subtypes is briefly discussed, including new diagnostic entities (clear cell papillary RCC, hereditary leiomyomatosis and RCC-associated RCC, succinate dehydrogenase-deficient RCC, tubulocystic RCC, and acquired cystic disease-associated RCC) and areas of evolving RCC classification, such as transcription elongation factor B subunit 1 (TCEB1)-mutated RCC/RCC with angioleiomyoma-like stroma/RCC with leiomyomatous stroma, RCC associated with anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangement, thyroidlike follicular RCC, and RCC in neuroblastoma survivors.
|
27684973 |
2016 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
Biomarker
|
disease |
BEFREE |
Pathologically, all TCEB1-mutated tumors shared characteristic features including thick fibromuscular bands transecting the tumor, pure clear cell cytology frequently with cells showing voluminous cytoplasm, and clear cell renal cell carcinoma-like acinar areas associated with infolding tubular and focally papillary architecture.
|
25676555 |
2015 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemia and clear cell renal carcinoma (ccRCC). pVHL forms a ternary complex with elongin C and elongin B, critical for pVHL stability and function, which interacts with Cullin-2 and RING-box protein 1 to target hypoxia-inducible factor for polyubiquitination and proteasomal degradation.
|
24969085 |
2014 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
Biomarker
|
disease |
CTD_human |
Defective VHL-mediated proteolysis was a common feature of ccRCC, which was caused not only by VHL inactivation but also by new hotspot TCEB1 mutations, which abolished Elongin C-VHL binding, leading to HIF accumulation.
|
23797736 |
2013 |
|
Papillary Renal Cell Carcinoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Nine could be reclassified as distinct or emerging entities: translocation renal cell carcinoma (n=3), TCEB1 mutant renal cell carcinoma (n=3), papillary renal cell carcinoma (n=2), and clear cell papillary renal cell carcinoma (n=1).
|
28731045 |
2017 |
|
Papillary Renal Cell Carcinoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Chromophobe Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Sarcomatoid Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Collecting Duct Carcinoma of the Kidney
|
0.300 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Serum total cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
Clear cell papillary renal cell carcinoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Of the remaining 8 tumors with IHC staining patterns that do not fit either ccRCC or ccpRCC only 3 of these had mutations in the recently described TCEB1 gene with concurrent monosomy of chromosome 8.
|
30986793 |
2019 |
|
Clear cell papillary renal cell carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
We selected 14 cases of CCPRCC with a wide spectrum of morphological features diagnosed on morphology and CK7 immunoreactivity and analysed them using a panel of immunohistochemical markers, focusing on 34βE12 and related CKs 1,5,10 and 14 and several molecular analyses such as fluorescence in situ hybridisation (FISH), array comparative genomic hybridisation (aCGH), VHL methylation, VHL and TCEB1 sequencing and multiplex ligation-dependent probe amplification (MLPA).
|
27923499 |
2017 |