Preferred Label : Renal cell carcinoma, nonpapillary;
Symbol : RCC;
CISMeF acronym : NRC1; RCC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Adenocarcinoma of kidney; HYPERNEPHROMA;
Included titles and symbols : Nonpapillary renal carcinoma 1 locus; NRC1;
Description : The Heidelberg histologic classification of renal cell tumors subdivides renal cell
tumors into benign and malignant parenchymal neoplasms and, where possible, limits
each subcategory to the most common documented genetic abnormalities (Kovacs et al.,
1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma
(clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting
duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell
carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms
and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary
renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe
renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically,
chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes
1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma
accounts for about 1% of renal cell carcinoma. Renal cell carcinoma occurs nearly
twice as often in men as in women; incidence in the United States is equivalent among
whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma
and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly
in women. Other risk factors include hypertension, unopposed estrogen therapy, and
occupational exposure to petroleum products, heavy metals, or asbestos (summary by
Motzer et al., 1996). - Genetic Heterogeneity of Renal Cell Carcinoma Germline mutation
resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type
occurs in the HNF1A gene (142410) and the HNF1B gene (189907). Somatic mutations in
renal cell carcinomas occur in the VHL gene (608537), the TRC8 gene (603046), the
OGG1 gene (601982), the ARMET gene (601916), the FLCN gene (607273), and the BAP1
gene (603089). See also RCCX1 (300854) for a discussion of renal cell carcinoma associated
with translocations of chromosome Xp11.2 involving the TFE3 gene (314310). For a discussion
of papillary renal cell carcinoma, see RCCP1 (605074). - Occurrence of Renal Cell
Carcinoma in Other Disorders Von Hippel-Lindau syndrome (193300) is a familial multicancer
syndrome in which there is a susceptibility to a variety of neoplasms, including renal
cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition
to uterine leiomyomas and papillary renal cell carcinoma has been reported (605839).
Medullary carcinoma of the kidney is believed to arise from the collecting ducts of
the renal medulla and is associated with sickle cell trait (603903) (Kovacs et al.,
1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (135150).
Bertolotto et al. (2011) identified a missense mutation in the MITF (156845) gene
that increases the risk of renal cell carcinoma with or without malignant melanoma
(CCMM8; 614456).;
Prefixed ID : #144700;
Origin ID : 144700;
UMLS CUI : C0279702;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
