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General section on renal cell tumors
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== Contributors ==
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Yajuan J. Liu PhD, FACMG
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== General section on renal cell tumors ==
 
Renal cell tumors comprise a heterogeneous group of tumors arising from the nephron, with diverse histological morphology, genetic alterations, and clinical behavior. The 2016 WHO classification of renal cell tumors (listed below) is primarily based on cytoplasmic features, architectural features, anatomic location of tumors, correlation with a specific renal disease background, and molecular alterations that are pathognomonic for RCC subtypes or familial predisposition syndromes.
 
Renal cell tumors comprise a heterogeneous group of tumors arising from the nephron, with diverse histological morphology, genetic alterations, and clinical behavior. The 2016 WHO classification of renal cell tumors (listed below) is primarily based on cytoplasmic features, architectural features, anatomic location of tumors, correlation with a specific renal disease background, and molecular alterations that are pathognomonic for RCC subtypes or familial predisposition syndromes.
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#[[Clear cell renal cell carcinoma]] (~65%)
 
#[[Clear cell renal cell carcinoma]] (~65%)
 
#Multilocular cystic renal neoplasm of low malignant potential
 
#Multilocular cystic renal neoplasm of low malignant potential
#Papillary renal carcinoma (~20%)
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#[[Papillary renal cell carcinoma]] (~20%)
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##[[Papillary renal cell carcinoma Type 1 | Type 1]]
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##[[Papillary renal cell carcinoma Type 2 | Type 2]]
 
#Hereditary leiomyomatosis and renal cell carcinoma (RCC) syndrome–associated RCC
 
#Hereditary leiomyomatosis and renal cell carcinoma (RCC) syndrome–associated RCC
#Chromophobe renal carcinoma (~5%)
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#[[Chromophobe renal cell carcinoma]] (~5%)
 
#[[Collecting duct carcinoma]]
 
#[[Collecting duct carcinoma]]
 
#Renal medullary carcinoma
 
#Renal medullary carcinoma
#MiT family translocation carcinomas
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#[[MiT family translocation carcinomas]]
 
#Succinate dehydrogenase [SDH]–deficient renal carcinomas
 
#Succinate dehydrogenase [SDH]–deficient renal carcinomas
 
#Mucinous tubular and spindle cell carcinoma
 
#Mucinous tubular and spindle cell carcinoma
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#Renal cell carcinoma, unclassified
 
#Renal cell carcinoma, unclassified
 
#Papillary adenoma
 
#Papillary adenoma
#Oncocytoma (~5%)
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#[[Renal Oncocytoma]] (~5%)
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Recent studies of The Cancer Genome Atlas (TCGA) on three major histologically defined types of RCC—clear cell, papillary, and chromophobe – showed that molecular subtypes exist within each major RCC type, and these subtypes have distinct driver mutations, unique dysregulated molecular pathways, varying clinical course, different responses to therapy, and patient survival.  In addition, Specific molecular aberrations could be identified in more than one RCC type. Widespread molecular changes associated with TFE3 gene fusion or chromatin modifier genes were present within a specific subtype and spanned multiple subtypes as shown, for example, that these alterations were found in a subset of both clear cell and papillary RCC. There were differences in patient survival and in alteration of specific pathways, including hypoxia, metabolism, MAP kinase, NRF2-ARE, Hippo, immune checkpoint, and PI3K/AKT/mTOR. Presumed actionable alterations include PI3K and immune checkpoint pathways. Therefore, therapeutic strategies could be tailored to each RCC disease subset, based on their molecular subtypes.
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Recent studies of The Cancer Genome Atlas (TCGA) on three major histologically defined types of RCC—clear cell, papillary, and chromophobe – showed that molecular subtypes exist within each major RCC type, and these subtypes have distinct driver mutations, unique dysregulated molecular pathways, varying clinical course, different responses to therapy, and patient survival.  In addition, Specific molecular aberrations could be identified in more than one RCC type. Widespread molecular changes associated with [[TFE3 gene fusion]] or [[chromatin modifier genes]] were present within a specific subtype and spanned multiple subtypes as shown, for example, that these alterations were found in a subset of both clear cell and papillary RCC. There were differences in patient survival and in alteration of specific pathways, including hypoxia, metabolism, MAP kinase, NRF2-ARE, Hippo, immune checkpoint, and [[PI3K/AKT/mTOR]]. Presumed actionable alterations include PI3K and immune checkpoint pathways. Therefore, therapeutic strategies could be tailored to each RCC disease subset, based on their molecular subtypes.