General Information of Disease (ID: DIS25HBV)

Disease Name Papillary renal cell carcinoma
Synonyms
papillary renal cell carcinoma, familial - (subtype); papillary renal carcinoma, malignant - (subtype); RCCP1; RCCP; renal adenocarcinoma; papillary renal cell carcinoma, sporadic - (subtype); renal cell carcinoma, papillary, 1; chromophil RCC; papillary renal cell carcinoma, multiple - (subtype); papillary renal cell carcinoma, bilateral - (subtype); papillary renal cell adenocarcinoma; HPRCC; papillary renal cell cancer; papillary (chromophil) renal cell carcinoma; renal cell carcinoma, papillary, type 1; papillary kidney carcinoma; chromophil carcinoma of kidney; chromophil renal cell carcinoma; sporadic papillary renal cell carcinoma; chromophil carcinoma of the kidney; papillary renal cell carcinoma
Definition
A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
Disease Hierarchy
DISC68C7: Papillary adenocarcinoma
DISWH728: Renal cell adenocarcinoma
DIS25HBV: Papillary renal cell carcinoma
Disease Identifiers
MONDO ID
MONDO_0017884
MESH ID
D002292
UMLS CUI
C1306837
MedGen ID
266300
HPO ID
HP:0006766
Orphanet ID
319298
SNOMED CT ID
733607005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 56 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALOX12B TTQ4QQH Limited Biomarker [1]
ALOX5 TTSJ6Q4 Limited Biomarker [1]
AMACR TTLN1AP Limited Biomarker [2]
BAP1 TT47RXJ moderate Biomarker [3]
ACHE TT1RS9F Strong Biomarker [4]
ADIPOQ TTXKA7D Strong Biomarker [5]
ALAD TTJHKYD Strong Biomarker [6]
ALK TTPMQSO Strong Biomarker [7]
BCHE TT3MSAO Strong Biomarker [4]
BIRC5 TTTPU1G Strong Therapeutic [8]
BIRC7 TTHZ8TA Strong Biomarker [9]
CASP2 TT12VNG Strong Biomarker [10]
CRYAB TT7RUHB Strong Biomarker [11]
CTSB TTF2LRI Strong Biomarker [11]
CTSD TTPT2QI Strong Biomarker [11]
CUL3 TTPCU0Q Strong Genetic Variation [12]
CUL7 TTI8R0P Strong Biomarker [13]
EIF2AK4 TT9U4EP Strong Altered Expression [14]
EPAS1 TTWPA54 Strong Biomarker [15]
ERBB2 TTR5TV4 Strong Biomarker [16]
FAAH2 TTWTES7 Strong Biomarker [9]
FBXO11 TT6G10V Strong Altered Expression [17]
FLT1 TT1VAUK Strong Therapeutic [18]
GJB1 TTSJIRP Strong Biomarker [19]
GSTP1 TT40K12 Strong Genetic Variation [20]
HSPA9 TTMTPG3 Strong Biomarker [11]
HSPB1 TT9AZWY Strong Biomarker [11]
HSPD1 TT9HL5R Strong Biomarker [11]
IFNA2 TTSIUJ9 Strong Therapeutic [21]
IL13 TT0GVCH Strong Biomarker [22]
IL4R TTDWHC3 Strong Biomarker [23]
KCNMA1 TTE87WJ Strong Biomarker [24]
KDM4C TTV8CRH Strong Altered Expression [25]
KDM5C TT94UCF Strong Biomarker [13]
KEAP1 TT3Z6Y9 Strong Biomarker [24]
L1CAM TTC9D3K Strong Biomarker [26]
LRRK2 TTK0FEA Strong Biomarker [13]
M6PR TT95ICL Strong Biomarker [24]
MTOR TTCJG29 Strong Biomarker [24]
NF2 TTZIK7P Strong Biomarker [9]
OAT TTTSCQ2 Strong Biomarker [27]
PAK1 TTFN95D Strong Biomarker [28]
PBRM1 TTH8ZRL Strong Biomarker [24]
PEBP1 TT1BGU8 Strong Biomarker [29]
POMC TT21AKM Strong Biomarker [30]
PRAME TTPH7T0 Strong Biomarker [31]
RYR1 TTU5CIX Strong Biomarker [13]
SCARB1 TTRE324 Strong Biomarker [15]
SETD2 TTPC3H4 Strong Biomarker [24]
SLC2A1 TT79TKF Strong Biomarker [32]
TAGLN2 TTP6BIJ Strong Biomarker [11]
TGM2 TT2F4OL Strong Biomarker [11]
TNFSF10 TTA5MS9 Strong Therapeutic [33]
CFP TTLA0VS Definitive Genetic Variation [34]
MET TTNDSF4 Definitive Autosomal dominant [35]
MET TTNDSF4 Definitive Genetic Variation [36]
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⏷ Show the Full List of 56 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC5A3 DT8ACN1 Strong Biomarker [9]
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This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALDH1A1 DE2JP1Y Strong Biomarker [11]
APRT DE2MV1R Strong Biomarker [11]
GSTM1 DEYZEJA Strong Biomarker [37]
GSTT1 DE3PKUG Strong Biomarker [37]
------------------------------------------------------------------------------------
This Disease Is Related to 73 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FH OTEQWU6Q Limited Genetic Variation [38]
PRCC OTJ0KRYX Limited Genetic Variation [39]
ACY1 OT9WU7X3 Strong Biomarker [11]
AHNAK OT6KH1WG Strong Biomarker [13]
AKAP13 OTOZAR14 Strong Biomarker [13]
ANXA4 OTUCRYXL Strong Biomarker [11]
AP5M1 OTDLWEBL Strong Biomarker [24]
APAF1 OTJWIVY0 Strong Biomarker [40]
APH1A OT97F1TU Strong Genetic Variation [41]
ASB15 OTI0ZVLJ Strong Biomarker [13]
BTG3 OT9ANHVT Strong Biomarker [42]
CAPG OTJ86KI6 Strong Biomarker [11]
CARD11 OTRCTLYC Strong Biomarker [13]
CDC34 OTNBK390 Strong Biomarker [43]
CDC73 OT6JASZ1 Strong Altered Expression [44]
CDR2 OTD3ZJST Strong Biomarker [45]
CNN2 OTH3CSXA Strong Biomarker [11]
CPQ OTTNZNLD Strong Biomarker [9]
CRABP1 OTISDG5X Strong Biomarker [46]
CRADD OT02TZ4S Strong Biomarker [10]
CSMD3 OTAT75SW Strong Biomarker [24]
DAPK1 OTNCNUCO Strong Biomarker [40]
DNHD1 OT4U3HUW Strong Biomarker [24]
EEF2 OTZ7SZ39 Strong Biomarker [11]
ELOC OT0XHHWP Strong Genetic Variation [47]
FAM111B OT9IQ9NV Strong Biomarker [13]
FBXO47 OTMAOLX2 Strong Biomarker [48]
FLCN OTVM78XM Strong Biomarker [49]
FMN2 OTUY7BSV Strong Biomarker [13]
FPGT OTVZJL3U Strong Biomarker [24]
FZD1 OTZATHVS Strong Altered Expression [50]
GRB7 OTF8Y9XY Strong Biomarker [24]
HARS1 OTHOEOTS Strong Biomarker [11]
IL6R OTCQL07Z Strong Biomarker [51]
INPP4B OTLROA7G Strong Biomarker [52]
KRT32 OTZCGZYT Strong Biomarker [24]
KRT7 OTLT3JFN Strong Biomarker [53]
KRT8 OTTM4X11 Strong Biomarker [11]
LARP6 OTUQ9QS9 Strong Biomarker [54]
LDHB OT9B1CT3 Strong Biomarker [11]
LMAN2L OTJ9FAWS Strong Biomarker [24]
LRP1B OT4YZG2N Strong Biomarker [13]
MITF OT6XJCZH Strong Biomarker [55]
MLLT10 OTURMDV7 Strong Biomarker [24]
MSGN1 OTZGNRKZ Strong Biomarker [24]
MUC4 OTLT11V1 Strong Biomarker [24]
NAPSA OT6F8IAL Strong Biomarker [56]
NAV3 OT97M1TR Strong Biomarker [13]
NDRG1 OTVO66BO Strong Biomarker [11]
NLRP12 OTGR132Z Strong Biomarker [24]
NONO OTN36Q6U Strong Biomarker [41]
PDHB OT2NHE5E Strong Biomarker [9]
PDXDC1 OTKH7U5Q Strong Biomarker [9]
PGK1 OT6V1ICH Strong Biomarker [11]
PIDD1 OTWFM930 Strong Biomarker [10]
PNKD OT6G9UXN Strong Biomarker [9]
PVALB OTZW1WVQ Strong Biomarker [57]
PYCR1 OTQHB52T Strong Biomarker [58]
RAB37 OTRL8IUO Strong Genetic Variation [59]
RELA OTUJP9CN Strong Biomarker [60]
RIOX2 OT2YFPI2 Strong Altered Expression [61]
RPL14 OTZZW7TK Strong Biomarker [24]
SETDB2 OTBVVP9Q Strong Altered Expression [61]
SFPQ OTLCIAPJ Strong Genetic Variation [41]
SFRP2 OT8GZ0CA Strong Biomarker [62]
SHANK1 OTK8PV0S Strong Biomarker [13]
SPTBN4 OTAJAVP9 Strong Biomarker [13]
SYNE2 OTBUXGQ0 Strong Biomarker [13]
TET2 OTKKT03T Strong Biomarker [24]
TFE3 OTM99ZWH Strong Biomarker [63]
TSC1 OTFF4YZ7 Strong Biomarker [13]
MET OT7K55MU Definitive Autosomal dominant [35]
TBC1D25 OT11OABF Definitive Genetic Variation [34]
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⏷ Show the Full List of 73 DOT(s)

References

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2 Atypical Renal Cysts: A Morphologic, Immunohistochemical, and Molecular Study.Am J Surg Pathol. 2016 Feb;40(2):202-11. doi: 10.1097/PAS.0000000000000557.
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5 Adiponectin gene polymorphisms and obesity increase the susceptibility to arsenic-related renal cell carcinoma.Toxicol Appl Pharmacol. 2018 Jul 1;350:11-20. doi: 10.1016/j.taap.2018.04.034. Epub 2018 Apr 30.
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9 Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes.Nat Genet. 2015 Jan;47(1):13-21. doi: 10.1038/ng.3146. Epub 2014 Nov 17.
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11 Differential protein profiling in renal-cell carcinoma.Mol Carcinog. 2004 May;40(1):47-61. doi: 10.1002/mc.20015.
12 CUL3 and NRF2 mutations confer an NRF2 activation phenotype in a sporadic form of papillary renal cell carcinoma.Cancer Res. 2013 Apr 1;73(7):2044-51. doi: 10.1158/0008-5472.CAN-12-3227. Epub 2013 Jan 30.
13 Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.Nat Genet. 2011 Dec 4;44(1):17-9. doi: 10.1038/ng.1014.
14 GCN2 is a potential prognostic biomarker for human papillary renal cell carcinoma.Cancer Biomark. 2018;22(3):395-403. doi: 10.3233/CBM-170922.
15 Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.Nat Genet. 2011 Jan;43(1):60-5. doi: 10.1038/ng.723. Epub 2010 Dec 5.
16 Expression and amplification of Topoisomerase-2 in type 1 and type 2 papillary renal cell carcinomas and its correlation with HER2/neu amplification.Pathol Oncol Res. 2011 Sep;17(3):697-703. doi: 10.1007/s12253-011-9372-0. Epub 2011 Apr 2.
17 Prevalence and prognostic value of FBXO11 expression in patients with clear cell renal cell carcinoma.BMC Cancer. 2019 Jun 3;19(1):534. doi: 10.1186/s12885-019-5736-8.
18 In vivo growth of transitional and renal cell carcinoma cell lines can be suppressed by the adenovirus-mediated expression of a soluble form of vascular endothelial growth factor receptor.Oncol Rep. 2006 May;15(5):1333-7.
19 5-Aza-2'-deoxycytidine suppresses human renal carcinoma cell growth in a xenograft model via up-regulation of the connexin 32 gene.Br J Pharmacol. 2008 Apr;153(7):1373-81. doi: 10.1038/bjp.2008.17. Epub 2008 Feb 11.
20 DNA hypermethylation in papillary renal cell carcinoma.BJU Int. 2011 Feb;107(4):664-9. doi: 10.1111/j.1464-410X.2010.09468.x.
21 [Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and interferon alpha-2B (IFN alpha-2B) for advanced renal cell carcinoma].Gan To Kagaku Ryoho. 1996 Oct;23(12):1689-91.
22 Polymorphisms in the IL-13 and IL-4R genes are associated with the development of renal cell carcinoma.Ann Oncol. 2012 Aug;23(8):2114-2121. doi: 10.1093/annonc/mdr607. Epub 2012 Feb 8.
23 Polymorphism rs4787951 in IL-4R contributes to the increased risk of renal cell carcinoma in a Chinese population.Gene. 2019 Feb 15;685:242-247. doi: 10.1016/j.gene.2018.11.070. Epub 2018 Nov 23.
24 Integrated molecular analysis of clear-cell renal cell carcinoma.Nat Genet. 2013 Aug;45(8):860-7. doi: 10.1038/ng.2699. Epub 2013 Jun 24.
25 iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma.Int J Mol Sci. 2019 Sep 30;20(19):4867. doi: 10.3390/ijms20194867.
26 L1-CAM expression in ccRCC correlates with shorter patients survival times and confers chemoresistance in renal cell carcinoma cells. Carcinogenesis. 2011 Mar;32(3):262-70. doi: 10.1093/carcin/bgq249. Epub 2010 Nov 19.
27 Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2.Cancer Genet Cytogenet. 1993 Dec;71(2):164-9. doi: 10.1016/0165-4608(93)90024-g.
28 Modulation of p21-activated kinase 1 alters the behavior of renal cell carcinoma.Int J Cancer. 2007 Nov 1;121(9):1930-1940. doi: 10.1002/ijc.22893.
29 Genetic variants in RKIP are associated with clear cell renal cell carcinoma risk in a Chinese population.PLoS One. 2014 Oct 16;9(10):e109285. doi: 10.1371/journal.pone.0109285. eCollection 2014.
30 Ectopic ACTH syndrome due to Grawitz tumor.Horm Metab Res. 1988 Jul;20(7):453-6. doi: 10.1055/s-2007-1010858.
31 The human tumor antigen PRAME is a dominant repressor of retinoic acid receptor signaling. Cell. 2005 Sep 23;122(6):835-47. doi: 10.1016/j.cell.2005.07.003.
32 Sporadic clear cell renal cell carcinoma but not the papillary type is characterized by severely reduced frequency of primary cilia.Mod Pathol. 2009 Jan;22(1):31-6. doi: 10.1038/modpathol.2008.132. Epub 2008 Jul 25.
33 The coffee diterpene kahweol sensitizes TRAIL-induced apoptosis in renal carcinoma Caki cells through down-regulation of Bcl-2 and c-FLIP.Chem Biol Interact. 2010 Jun 7;186(1):36-42. doi: 10.1016/j.cbi.2010.04.013. Epub 2010 Apr 18.
34 Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints.Hum Genet. 1993 Oct 1;92(3):305-8. doi: 10.1007/BF00244478.
35 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
36 First-in-Human Phase I Study of the Selective MET Inhibitor, Savolitinib, in Patients with Advanced Solid Tumors: Safety, Pharmacokinetics, and Antitumor Activity.Clin Cancer Res. 2019 Aug 15;25(16):4924-4932. doi: 10.1158/1078-0432.CCR-18-1189. Epub 2019 Apr 5.
37 GSTM1 and GSTT1 polymorphisms contribute to renal cell carcinoma risk: evidence from an updated meta-analysis.Sci Rep. 2015 Dec 14;5:17971. doi: 10.1038/srep17971.
38 Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.J Inherit Metab Dis. 2006 Oct;29(5):683. doi: 10.1007/s10545-006-0321-0. Epub 2006 Aug 5.
39 A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid Toxicity in the Drosophila Brain.Front Aging Neurosci. 2017 Mar 14;9:61. doi: 10.3389/fnagi.2017.00061. eCollection 2017.
40 Methylation of tumour suppressor genes APAF-1 and DAPK-1 and in vitro effects of demethylating agents in bladder and kidney cancer.Br J Cancer. 2006 Dec 18;95(12):1701-7. doi: 10.1038/sj.bjc.6603482. Epub 2006 Nov 28.
41 Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.Oncogene. 1997 Oct;15(18):2233-9. doi: 10.1038/sj.onc.1201394.
42 BTG3 tumor suppressor gene promoter demethylation, histone modification and cell cycle arrest by genistein in renal cancer. Carcinogenesis. 2009 Apr;30(4):662-70. doi: 10.1093/carcin/bgp042. Epub 2009 Feb 12.
43 Deregulation of E2-EPF ubiquitin carrier protein in papillary renal cell carcinoma.Am J Pathol. 2011 Feb;178(2):853-60. doi: 10.1016/j.ajpath.2010.10.033.
44 Expression of parafibromin in major renal cell tumors.Eur J Histochem. 2012 Oct 23;56(4):e39. doi: 10.4081/ejh.2012.e39.
45 Onconeuronal cerebellar degeneration-related antigen, Cdr2, is strongly expressed in papillary renal cell carcinoma and leads to attenuated hypoxic response.Oncogene. 2009 Sep 17;28(37):3274-85. doi: 10.1038/onc.2009.186. Epub 2009 Jul 6.
46 Cellular retinoic acid binding protein I: expression and functional influence in renal cell carcinoma. Tumour Biol. 2005 Nov-Dec;26(6):313-23. doi: 10.1159/000089262. Epub 2005 Oct 25.
47 Renal cell tumors with clear cell histology and intact VHL and chromosome 3p: a histological review of tumors from the Cancer Genome Atlas database.Mod Pathol. 2017 Nov;30(11):1603-1612. doi: 10.1038/modpathol.2017.72. Epub 2017 Jul 21.
48 Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma.Genes Chromosomes Cancer. 2005 May;43(1):83-94. doi: 10.1002/gcc.20170.
49 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dub syndrome.Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6.
50 Overexpression of FZD1 is Associated with a Good Prognosis and Resistance of Sunitinib in Clear Cell Renal Cell Carcinoma.J Cancer. 2019 Jan 29;10(5):1237-1251. doi: 10.7150/jca.28662. eCollection 2019.
51 Sensitization of human renal cell carcinoma cells to cis-diamminedichloroplatinum(II) by anti-interleukin 6 monoclonal antibody or anti-interleukin 6 receptor monoclonal antibody. Cancer Res. 1995 Feb 1;55(3):590-6.
52 SubID, a non-median dichotomization tool for heterogeneous populations, reveals the pan-cancer significance of INPP4B and its regulation by EVI1 in AML.PLoS One. 2018 Feb 7;13(2):e0191510. doi: 10.1371/journal.pone.0191510. eCollection 2018.
53 Renal cell carcinoma with areas mimicking renal angiomyoadenomatous tumor/clear cell papillary renal cell carcinoma.Hum Pathol. 2013 Jul;44(7):1412-20. doi: 10.1016/j.humpath.2012.11.019. Epub 2013 Feb 21.
54 Drug resistance in papillary RCC: from putative mechanisms to clinical practicalities.Nat Rev Urol. 2019 Nov;16(11):655-673. doi: 10.1038/s41585-019-0233-z. Epub 2019 Oct 10.
55 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539.
56 Applications and limitations of immunohistochemical expression of "Napsin-A" in distinguishing lung adenocarcinoma from adenocarcinomas of other organs.Appl Immunohistochem Mol Morphol. 2013 May;21(3):191-5. doi: 10.1097/PAI.0b013e3182612643.
57 Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.Anal Quant Cytol Histol. 2006 Aug;28(4):228-36.
58 PYCR1 is Associated with Papillary Renal Cell Carcinoma Progression.Open Med (Wars). 2019 Aug 14;14:586-592. doi: 10.1515/med-2019-0066. eCollection 2019.
59 Papillary renal cell carcinoma: a clinicopathological and whole-genome exon sequencing study.Int J Clin Exp Pathol. 2015 Jul 1;8(7):8311-35. eCollection 2015.
60 Targeting the nuclear factor-kappaB rescue pathway has promising future in human renal cell carcinoma therapy.Cancer Res. 2007 Dec 15;67(24):11668-76. doi: 10.1158/0008-5472.CAN-07-0632.
61 SETDB2 and RIOX2 are differentially expressed among renal cell tumor subtypes, associating with prognosis and metastization.Epigenetics. 2017;12(12):1057-1064. doi: 10.1080/15592294.2017.1385685. Epub 2018 Jan 22.
62 DNA methylation and histone modifications cause silencing of Wnt antagonist gene in human renal cell carcinoma cell lines.Int J Cancer. 2008 Aug 1;123(3):535-42. doi: 10.1002/ijc.23514.
63 TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.Am J Med Genet A. 2020 Mar;182(3):584-590. doi: 10.1002/ajmg.a.61437. Epub 2019 Dec 12.