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Renal cell carcinoma(RCCP1)

MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Synonyms: Hypernephroma; RCCP1
SNOMED CT: Renal cell carcinoma - morphology (41607009); Renal cell carcinoma (702391001); Hypernephroma (702391001); Renal cell carcinoma (41607009); Renal cell adenocarcinoma (41607009)
 
HPO: HP:0005584
OMIM®: 144700
Orphanet: ORPHA217071

Definition

A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal cell carcinoma
Follow this link to review classifications for Renal cell carcinoma in Orphanet.

Conditions with this feature

Colorectal cancer
MedGen UID:
3170
Concept ID:
C0009402
Neoplastic Process
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Multiple fibrofolliculomas
MedGen UID:
91070
Concept ID:
C0346010
Neoplastic Process
The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor(s) and/or spontaneous pneumothorax without cutaneous manifestations.
Carcinoma of colon
MedGen UID:
147065
Concept ID:
C0699790
Neoplastic Process
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Hereditary leiomyomatosis and renal cell cancer
MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical dysplasias, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical dysplasias, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Paragangliomas 4
MedGen UID:
349380
Concept ID:
C1861848
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Glomerulopathy with fibronectin deposits 2
MedGen UID:
356149
Concept ID:
C1866075
Disease or Syndrome
Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti et al., 2008). For a discussion of genetic heterogeneity of GFND, see 137950.
Renal cell carcinoma, Xp11-associated
MedGen UID:
477077
Concept ID:
C3275446
Neoplastic Process
Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (606236) on chromosome 17q25 and PRCC (179755) on 1q21, and more rarely, NONO (300084) on Xq13, SFPQ (605199) on 1p34, CLTC (118955) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010). For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (144700).
Tumor susceptibility linked to germline BAP1 mutations
MedGen UID:
482122
Concept ID:
C3280492
Disease or Syndrome
BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), and basal cell carcinoma (BCC). Hepatocellular carcinoma, cholangiocarcinoma, and meningioma may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. Due to the limited number of families reported to date, the penetrance, natural history, and frequencies of BAP1-associated tumors are yet to be determined. Other suspected but unconfirmed tumors in BAP1-TPDS include (in alphabetic order): breast cancer, neuroendocrine carcinoma, non-small-cell lung adenocarcinoma, thyroid cancer, and urinary bladder cancer.
Renal cell carcinoma, nonpapillary
MedGen UID:
449382
Concept ID:
CN074294
Disease or Syndrome
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 (CMM8; 614456).

Recent clinical studies

Etiology

Jian Y, Yang K, Sun X, Zhao J, Huang K, Aldanakh A, Xu Z, Wu H, Xu Q, Zhang L, Xu C, Yang D, Wang S
Front Immunol 2021;12:639636. Epub 2021 Mar 9 doi: 10.3389/fimmu.2021.639636. PMID: 33767709Free PMC Article
Tamura K, Osawa T, Takeuchi A, Minami K, Nakai Y, Ueda K, Ozawa M, Uemura M, Sugimoto M, Ohba K, Suzuki T, Anai S, Shindo T, Kusakabe N, Komiyama M, Tanaka K, Yokomizo A, Kohei N, Shinohara N, Miyake H; Japanese Urological Oncology Group.
Jpn J Clin Oncol 2021 Apr 30;51(5):810-818. doi: 10.1093/jjco/hyaa264. PMID: 33479762
Tachibana H, Kondo T, Ishihara H, Fukuda H, Yoshida K, Takagi T, Izuka J, Kobayashi H, Tanabe K
Jpn J Clin Oncol 2021 Apr 1;51(4):646-653. doi: 10.1093/jjco/hyaa229. PMID: 33212488
Ushijima Y, Asayama Y, Nishie A, Takayama Y, Kubo Y, Ishimatsu K, Ishigami K
Cardiovasc Intervent Radiol 2021 Mar;44(3):414-420. Epub 2020 Nov 17 doi: 10.1007/s00270-020-02709-w. PMID: 33205290
Tanaka T, Hatakeyama S, Numakura K, Kido K, Noro D, Oikawa M, Hosogoe S, Tokui N, Yamamoto H, Narita S, Ito H, Yoneyama T, Hashimoto Y, Kawaguchi T, Habuchi T, Ohyama C
Int J Urol 2020 Dec;27(12):1095-1100. Epub 2020 Sep 6 doi: 10.1111/iju.14363. PMID: 32893401

Diagnosis

Haeberle L, Busch M, Kirchner J, Fluegen G, Antoch G, Knoefel WT, Esposito I
J Med Case Rep 2021 May 31;15(1):314. doi: 10.1186/s13256-021-02768-8. PMID: 34059139Free PMC Article
Tamura K, Osawa T, Takeuchi A, Minami K, Nakai Y, Ueda K, Ozawa M, Uemura M, Sugimoto M, Ohba K, Suzuki T, Anai S, Shindo T, Kusakabe N, Komiyama M, Tanaka K, Yokomizo A, Kohei N, Shinohara N, Miyake H; Japanese Urological Oncology Group.
Jpn J Clin Oncol 2021 Apr 30;51(5):810-818. doi: 10.1093/jjco/hyaa264. PMID: 33479762
Cox A, Tolkach Y, Stein J, Kristiansen G, Ritter M, Ellinger J
Int J Urol 2021 Apr;28(4):424-431. Epub 2021 Jan 19 doi: 10.1111/iju.14486. PMID: 33465825
Tachibana H, Kondo T, Ishihara H, Fukuda H, Yoshida K, Takagi T, Izuka J, Kobayashi H, Tanabe K
Jpn J Clin Oncol 2021 Apr 1;51(4):646-653. doi: 10.1093/jjco/hyaa229. PMID: 33212488
Gudowska-Sawczuk M, Kudelski J, Mroczko B
Int J Mol Sci 2020 Nov 14;21(22) doi: 10.3390/ijms21228582. PMID: 33202536Free PMC Article

Therapy

Tamura K, Osawa T, Takeuchi A, Minami K, Nakai Y, Ueda K, Ozawa M, Uemura M, Sugimoto M, Ohba K, Suzuki T, Anai S, Shindo T, Kusakabe N, Komiyama M, Tanaka K, Yokomizo A, Kohei N, Shinohara N, Miyake H; Japanese Urological Oncology Group.
Jpn J Clin Oncol 2021 Apr 30;51(5):810-818. doi: 10.1093/jjco/hyaa264. PMID: 33479762
Atkins MB, Plimack ER, Puzanov I, Fishman MN, McDermott DF, Cho DC, Vaishampayan U, George S, Tarazi JC, Duggan W, Perini R, Thakur M, Fernandez KC, Choueiri TK
Eur J Cancer 2021 Mar;145:1-10. Epub 2021 Jan 4 doi: 10.1016/j.ejca.2020.12.009. PMID: 33412465
Tachibana H, Kondo T, Ishihara H, Fukuda H, Yoshida K, Takagi T, Izuka J, Kobayashi H, Tanabe K
Jpn J Clin Oncol 2021 Apr 1;51(4):646-653. doi: 10.1093/jjco/hyaa229. PMID: 33212488
Tanaka T, Hatakeyama S, Numakura K, Kido K, Noro D, Oikawa M, Hosogoe S, Tokui N, Yamamoto H, Narita S, Ito H, Yoneyama T, Hashimoto Y, Kawaguchi T, Habuchi T, Ohyama C
Int J Urol 2020 Dec;27(12):1095-1100. Epub 2020 Sep 6 doi: 10.1111/iju.14363. PMID: 32893401
Zhang X, Zhang H, Dai J, Liu Z, Zhu X, Ni Y, Yin X, Sun G, Zhu S, Chen J, Zhao J, Wang J, Zeng H, Shen P
Jpn J Clin Oncol 2020 Dec 16;50(12):1454-1463. doi: 10.1093/jjco/hyaa120. PMID: 32719852

Prognosis

Tamura K, Osawa T, Takeuchi A, Minami K, Nakai Y, Ueda K, Ozawa M, Uemura M, Sugimoto M, Ohba K, Suzuki T, Anai S, Shindo T, Kusakabe N, Komiyama M, Tanaka K, Yokomizo A, Kohei N, Shinohara N, Miyake H; Japanese Urological Oncology Group.
Jpn J Clin Oncol 2021 Apr 30;51(5):810-818. doi: 10.1093/jjco/hyaa264. PMID: 33479762
Cox A, Tolkach Y, Stein J, Kristiansen G, Ritter M, Ellinger J
Int J Urol 2021 Apr;28(4):424-431. Epub 2021 Jan 19 doi: 10.1111/iju.14486. PMID: 33465825
Gudowska-Sawczuk M, Kudelski J, Mroczko B
Int J Mol Sci 2020 Nov 14;21(22) doi: 10.3390/ijms21228582. PMID: 33202536Free PMC Article
Wang Y, Yan K, Lin J, Wang J, Zheng Z, Li X, Hua Z, Bu Y, Shi J, Sun S, Li X, Liu Y, Bi J
Aging (Albany NY) 2020 Nov 5;12(21):21854-21873. doi: 10.18632/aging.104001. PMID: 33154194Free PMC Article
Tanaka T, Hatakeyama S, Numakura K, Kido K, Noro D, Oikawa M, Hosogoe S, Tokui N, Yamamoto H, Narita S, Ito H, Yoneyama T, Hashimoto Y, Kawaguchi T, Habuchi T, Ohyama C
Int J Urol 2020 Dec;27(12):1095-1100. Epub 2020 Sep 6 doi: 10.1111/iju.14363. PMID: 32893401

Clinical prediction guides

Tamura K, Osawa T, Takeuchi A, Minami K, Nakai Y, Ueda K, Ozawa M, Uemura M, Sugimoto M, Ohba K, Suzuki T, Anai S, Shindo T, Kusakabe N, Komiyama M, Tanaka K, Yokomizo A, Kohei N, Shinohara N, Miyake H; Japanese Urological Oncology Group.
Jpn J Clin Oncol 2021 Apr 30;51(5):810-818. doi: 10.1093/jjco/hyaa264. PMID: 33479762
Cox A, Tolkach Y, Stein J, Kristiansen G, Ritter M, Ellinger J
Int J Urol 2021 Apr;28(4):424-431. Epub 2021 Jan 19 doi: 10.1111/iju.14486. PMID: 33465825
Tachibana H, Kondo T, Ishihara H, Fukuda H, Yoshida K, Takagi T, Izuka J, Kobayashi H, Tanabe K
Jpn J Clin Oncol 2021 Apr 1;51(4):646-653. doi: 10.1093/jjco/hyaa229. PMID: 33212488
Tanaka T, Hatakeyama S, Numakura K, Kido K, Noro D, Oikawa M, Hosogoe S, Tokui N, Yamamoto H, Narita S, Ito H, Yoneyama T, Hashimoto Y, Kawaguchi T, Habuchi T, Ohyama C
Int J Urol 2020 Dec;27(12):1095-1100. Epub 2020 Sep 6 doi: 10.1111/iju.14363. PMID: 32893401
Zhang X, Zhang H, Dai J, Liu Z, Zhu X, Ni Y, Yin X, Sun G, Zhu S, Chen J, Zhao J, Wang J, Zeng H, Shen P
Jpn J Clin Oncol 2020 Dec 16;50(12):1454-1463. doi: 10.1093/jjco/hyaa120. PMID: 32719852

Recent systematic reviews

Gudowska-Sawczuk M, Kudelski J, Mroczko B
Int J Mol Sci 2020 Nov 14;21(22) doi: 10.3390/ijms21228582. PMID: 33202536Free PMC Article
Jiang F, Teng M, Zhu YX, Li YJ
J Sci Food Agric 2020 May;100(7):3071-3077. Epub 2020 Mar 2 doi: 10.1002/jsfa.10339. PMID: 32077494
Buti S, Petrelli F, Ghidini A, Vavassori I, Maestroni U, Bersanelli M
Clin Transl Oncol 2020 Sep;22(9):1657-1663. Epub 2020 Jan 19 doi: 10.1007/s12094-020-02292-z. PMID: 31956940
Yuan P, Ge Y, Liu X, Wang S, Ye Z, Xu H, Chen Z
Pathol Oncol Res 2020 Apr;26(2):605-614. Epub 2019 Mar 28 doi: 10.1007/s12253-019-00650-z. PMID: 30919276
Liu Y, Zhou L, Chen Y, Liao B, Ye D, Wang K, Li H
BMC Urol 2019 Jun 7;19(1):49. doi: 10.1186/s12894-019-0481-5. PMID: 31174518Free PMC Article

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