U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Renal cell carcinoma(RCCP1)

MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Synonym: RCCP1
SNOMED CT: Renal cell carcinoma - morphology (41607009); Renal cell carcinoma (702391001); Hypernephroma (702391001); Renal cell carcinoma (41607009); Renal cell adenocarcinoma (41607009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0005584
Monarch Initiative: MONDO:0005086
OMIM®: 144700
Orphanet: ORPHA217071

Definition

A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. [from HPO]

Clinical features

From HPO
Renal cell carcinoma
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.

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

Renal cell carcinoma
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
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.
Colorectal cancer
MedGen UID:
83428
Concept ID:
C0346629
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.
Multiple cutaneous leiomyomas
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 tubers, 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 tubers, 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.
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).
BAP1-related tumor predisposition syndrome
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.
Birt-Hogg-Dube syndrome 1
MedGen UID:
1051978
Concept ID:
CN375946
Disease or Syndrome
Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.

Professional guidelines

PubMed

Bahadoram S, Davoodi M, Hassanzadeh S, Bahadoram M, Barahman M, Mafakher L
G Ital Nefrol 2022 Jun 20;39(3) PMID: 35819037
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB
J Urol 2016 Apr;195(4 Pt 1):834-46. Epub 2015 Nov 21 doi: 10.1016/j.juro.2015.07.126. PMID: 26612197

Recent clinical studies

Etiology

Msaouel P, Genovese G, Tannir NM
Hematol Oncol Clin North Am 2023 Oct;37(5):977-992. Epub 2023 May 25 doi: 10.1016/j.hoc.2023.04.019. PMID: 37244822
Bahadoram S, Davoodi M, Hassanzadeh S, Bahadoram M, Barahman M, Mafakher L
G Ital Nefrol 2022 Jun 20;39(3) PMID: 35819037
Garje R, Elhag D, Yasin HA, Acharya L, Vaena D, Dahmoush L
Crit Rev Oncol Hematol 2021 Apr;160:103287. Epub 2021 Mar 19 doi: 10.1016/j.critrevonc.2021.103287. PMID: 33753250
Moch H, Ohashi R
Pathology 2021 Jan;53(1):101-108. Epub 2020 Nov 9 doi: 10.1016/j.pathol.2020.09.015. PMID: 33183792
Ray S, Jones R, Pritchard-Jones K, Dzhuma K, van den Heuvel-Eibrink M, Tytgat G, van der Beek J, Oades G, Murphy D
Pediatr Blood Cancer 2020 Nov;67(11):e28675. Epub 2020 Sep 1 doi: 10.1002/pbc.28675. PMID: 32869954

Diagnosis

Msaouel P, Genovese G, Tannir NM
Hematol Oncol Clin North Am 2023 Oct;37(5):977-992. Epub 2023 May 25 doi: 10.1016/j.hoc.2023.04.019. PMID: 37244822
Mendhiratta N, Muraki P, Sisk AE Jr, Shuch B
Urol Oncol 2021 Jun;39(6):327-337. Epub 2021 May 24 doi: 10.1016/j.urolonc.2021.04.013. PMID: 34034966
Williamson SR, Taneja K, Cheng L
Histopathology 2019 Jan;74(1):18-30. doi: 10.1111/his.13743. PMID: 30565307
Rathmell WK, Martz CA, Rini BI
Curr Opin Oncol 2007 May;19(3):234-40. doi: 10.1097/CCO.0b013e3280ad4388. PMID: 17414642
Rathmell WK, Godley PA
Curr Opin Oncol 2004 May;16(3):247-52. doi: 10.1097/00001622-200405000-00010. PMID: 15069321

Therapy

Davidson G, Helleux A, Vano YA, Lindner V, Fattori A, Cerciat M, Elaidi RT, Verkarre V, Sun CM, Chevreau C, Bennamoun M, Lang H, Tricard T, Fridman WH, Sautes-Fridman C, Su X, Plassard D, Keime C, Thibault-Carpentier C, Barthelemy P, Oudard SM, Davidson I, Malouf GG
Cancer Res 2023 Sep 1;83(17):2952-2969. doi: 10.1158/0008-5472.CAN-22-3034. PMID: 37335139
Tsimafeyeu I, Basin MF, Bratslavsky G
World J Urol 2023 Jul;41(7):1855-1859. Epub 2023 Jun 13 doi: 10.1007/s00345-023-04450-8. PMID: 37310435
Garcia J, Hurwitz HI, Sandler AB, Miles D, Coleman RL, Deurloo R, Chinot OL
Cancer Treat Rev 2020 Jun;86:102017. Epub 2020 Mar 26 doi: 10.1016/j.ctrv.2020.102017. PMID: 32335505
Miyamoto S, Kakutani S, Sato Y, Hanashi A, Kinoshita Y, Ishikawa A
Jpn J Clin Oncol 2018 Jun 1;48(6):503-513. doi: 10.1093/jjco/hyy053. PMID: 29684209
Ma WW, Jimeno A
Drugs Today (Barc) 2007 Oct;43(10):659-69. doi: 10.1358/dot.2007.43.10.1148059. PMID: 17987219

Prognosis

Petrelli F, Cortellini A, Indini A, Tomasello G, Ghidini M, Nigro O, Salati M, Dottorini L, Iaculli A, Varricchio A, Rampulla V, Barni S, Cabiddu M, Bossi A, Ghidini A, Zaniboni A
JAMA Netw Open 2021 Mar 1;4(3):e213520. doi: 10.1001/jamanetworkopen.2021.3520. PMID: 33779745Free PMC Article
McDermott DF, Lee JL, Ziobro M, Suarez C, Langiewicz P, Matveev VB, Wiechno P, Gafanov RA, Tomczak P, Pouliot F, Donskov F, Alekseev BY, Shin SJ, Bjarnason GA, Castellano D, Silverman RK, Perini RF, Schloss C, Atkins MB
J Clin Oncol 2021 Mar 20;39(9):1029-1039. Epub 2021 Feb 2 doi: 10.1200/JCO.20.02365. PMID: 33529058Free PMC Article
Rini BI, Pal SK, Escudier BJ, Atkins MB, Hutson TE, Porta C, Verzoni E, Needle MN, McDermott DF
Lancet Oncol 2020 Jan;21(1):95-104. Epub 2019 Dec 3 doi: 10.1016/S1470-2045(19)30735-1. PMID: 31810797
Choueiri TK, Escudier B, Powles T, Tannir NM, Mainwaring PN, Rini BI, Hammers HJ, Donskov F, Roth BJ, Peltola K, Lee JL, Heng DYC, Schmidinger M, Agarwal N, Sternberg CN, McDermott DF, Aftab DT, Hessel C, Scheffold C, Schwab G, Hutson TE, Pal S, Motzer RJ; METEOR investigators
Lancet Oncol 2016 Jul;17(7):917-927. Epub 2016 Jun 5 doi: 10.1016/S1470-2045(16)30107-3. PMID: 27279544
Pierorazio PM, Johnson MH, Patel HD, Sozio SM, Sharma R, Iyoha E, Bass EB, Allaf ME
J Urol 2016 Oct;196(4):989-99. Epub 2016 May 6 doi: 10.1016/j.juro.2016.04.081. PMID: 27157369Free PMC Article

Clinical prediction guides

Kubiliūtė R, Žukauskaitė K, Žalimas A, Ulys A, Sabaliauskaitė R, Bakavičius A, Želvys A, Jankevičius F, Jarmalaitė S
J Cancer Res Clin Oncol 2022 Feb;148(2):361-375. Epub 2021 Oct 23 doi: 10.1007/s00432-021-03837-7. PMID: 34689221
Leibovich BC, Lohse CM, Cheville JC, Zaid HB, Boorjian SA, Frank I, Thompson RH, Parker WP
Eur Urol 2018 May;73(5):772-780. Epub 2018 Feb 3 doi: 10.1016/j.eururo.2018.01.005. PMID: 29398265
Miettinen M, McCue PA, Sarlomo-Rikala M, Rys J, Czapiewski P, Wazny K, Langfort R, Waloszczyk P, Biernat W, Lasota J, Wang Z
Am J Surg Pathol 2014 Jan;38(1):13-22. doi: 10.1097/PAS.0b013e3182a0218f. PMID: 24145643Free PMC Article
Georgiades C, Rodriguez R
Tech Vasc Interv Radiol 2013 Dec;16(4):230-8. doi: 10.1053/j.tvir.2013.08.006. PMID: 24238378
Volpe A, Patard JJ
World J Urol 2010 Jun;28(3):319-27. Epub 2010 Apr 3 doi: 10.1007/s00345-010-0540-8. PMID: 20364259

Recent systematic reviews

Aldin A, Besiroglu B, Adams A, Monsef I, Piechotta V, Tomlinson E, Hornbach C, Dressen N, Goldkuhle M, Maisch P, Dahm P, Heidenreich A, Skoetz N
Cochrane Database Syst Rev 2023 May 4;5(5):CD013798. doi: 10.1002/14651858.CD013798.pub2. PMID: 37146227Free PMC Article
Bukavina L, Bensalah K, Bray F, Carlo M, Challacombe B, Karam JA, Kassouf W, Mitchell T, Montironi R, O'Brien T, Panebianco V, Scelo G, Shuch B, van Poppel H, Blosser CD, Psutka SP
Eur Urol 2022 Nov;82(5):529-542. Epub 2022 Sep 10 doi: 10.1016/j.eururo.2022.08.019. PMID: 36100483
Lombardi P, Filetti M, Falcone R, Di Bidino R, Iacovelli R, Ciccarese C, Bria E, Tortora G, Scambia G, Daniele G
Cancer Treat Rev 2022 May;106:102377. Epub 2022 Mar 16 doi: 10.1016/j.ctrv.2022.102377. PMID: 35313232
Bui TO, Dao VT, Nguyen VT, Feugeas JP, Pamoukdjian F, Bousquet G
Eur Urol 2022 Apr;81(4):349-361. Epub 2022 Jan 3 doi: 10.1016/j.eururo.2021.12.010. PMID: 34991918
Pierorazio PM, Johnson MH, Patel HD, Sozio SM, Sharma R, Iyoha E, Bass EB, Allaf ME
J Urol 2016 Oct;196(4):989-99. Epub 2016 May 6 doi: 10.1016/j.juro.2016.04.081. PMID: 27157369Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...