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 |