RCCX1
MCID: RNL119
MIFTS: 42

Renal Cell Carcinoma, Xp11-Associated (RCCX1)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Cell Carcinoma, Xp11-Associated

MalaCards integrated aliases for Renal Cell Carcinoma, Xp11-Associated:

Name: Renal Cell Carcinoma, Xp11-Associated 57 29 70
Mit Family Translocation Renal Cell Carcinoma 58 29
Rccx1 57 72
Carcinoma Associated with Mitf/tfe Translocation 58
Carcinoma, Renal Cell, Xp11-Associated 39
Renal Cell Carcinoma Xp11-Associated 72
Renal Cell Carcinoma, Papillary, 1 57
Translocation Renal Cell Carcinoma 58
Renal Cell Carcinoma Papillary 1 72

Characteristics:

HPO:

31
renal cell carcinoma, xp11-associated:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM® 57 300854
MeSH 44 D002292
ICD10 via Orphanet 33 C64
Orphanet 58 ORPHA319308
MedGen 41 C3275446
SNOMED-CT via HPO 68 124975008 41607009 702391001
UMLS 70 C3275446

Summaries for Renal Cell Carcinoma, Xp11-Associated

OMIM® : 57 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). (300854) (Updated 05-Apr-2021)

MalaCards based summary : Renal Cell Carcinoma, Xp11-Associated, also known as mit family translocation renal cell carcinoma, is related to alveolar soft part sarcoma and renal cell carcinoma, papillary, 1. An important gene associated with Renal Cell Carcinoma, Xp11-Associated is TFE3 (Transcription Factor Binding To IGHM Enhancer 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Mitophagy - animal. The drugs Axitinib and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include kidney and breast, and related phenotype is renal cell carcinoma.

UniProtKB/Swiss-Prot : 72 Renal cell carcinoma Xp11-associated: Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed.

Related Diseases for Renal Cell Carcinoma, Xp11-Associated

Diseases related to Renal Cell Carcinoma, Xp11-Associated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 alveolar soft part sarcoma 30.3 TFE3 PRCC ASPSCR1
2 renal cell carcinoma, papillary, 1 30.2 TFEB TFE3 SFPQ PRCC NONO CLTC
3 perivascular epithelioid cell tumor 30.0 TFE3 ASPSCR1
4 childhood kidney cell carcinoma 28.1 TFEB TFE3 SFPQ PRCC CLTC ASPSCR1
5 renal cell carcinoma, nonpapillary 10.6
6 kidney cancer 10.5
7 microphthalmia 10.4
8 rare tumor 10.3
9 chromophil renal cell carcinoma 10.3
10 leukemia, acute myeloid 10.2
11 osteopetrosis 10.2
12 angiomyolipoma 10.2
13 sarcoma 10.1
14 spindle cell sarcoma 10.1
15 clear cell renal cell carcinoma 10.1
16 neuroblastoma 10.1
17 posttransplant acute limbic encephalitis 10.1
18 rare renal tumor 10.1
19 eosinophilic variant of chromophobe renal cell carcinoma 10.0 TFEB TFE3
20 mesenchymal cell neoplasm 10.0 TFE3 CLTC
21 skeletal muscle cancer 10.0 TFE3 ASPSCR1
22 waardenburg syndrome, type 2a 10.0 TFEB TFE3
23 nephrogenic adenofibroma 10.0 TFE3 PRCC
24 medulloblastoma 10.0
25 wilms tumor 1 10.0
26 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
27 sickle cell anemia 10.0
28 ewing sarcoma 10.0
29 helix syndrome 10.0
30 proteinuria, chronic benign 10.0
31 deficiency anemia 10.0
32 exanthem 10.0
33 hepatoid adenocarcinoma 10.0
34 polycystic kidney disease 10.0
35 arteriovenous malformation 10.0
36 pyelonephritis 10.0
37 xanthogranulomatous pyelonephritis 10.0
38 nephrotic syndrome 10.0
39 tuberous sclerosis 10.0
40 benign mesothelioma 10.0
41 iga glomerulonephritis 10.0
42 fibrosarcoma 10.0
43 collecting duct carcinoma 10.0
44 kidney disease 10.0
45 end stage renal disease 10.0
46 chronic kidney disease 10.0
47 kidney angiomyolipoma 10.0
48 congenital fibrosarcoma 10.0
49 vasculitis 10.0
50 autosomal dominant polycystic kidney disease 10.0

Graphical network of the top 20 diseases related to Renal Cell Carcinoma, Xp11-Associated:



Diseases related to Renal Cell Carcinoma, Xp11-Associated

Symptoms & Phenotypes for Renal Cell Carcinoma, Xp11-Associated

Human phenotypes related to Renal Cell Carcinoma, Xp11-Associated:

31
# Description HPO Frequency HPO Source Accession
1 renal cell carcinoma 31 HP:0005584

Clinical features from OMIM®:

300854 (Updated 05-Apr-2021)

Drugs & Therapeutics for Renal Cell Carcinoma, Xp11-Associated

Drugs for Renal Cell Carcinoma, Xp11-Associated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
2
nivolumab Approved Phase 2 946414-94-4
3 Antineoplastic Agents, Immunological Phase 2
4 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Phase 2 Trial of Axitinib/Nivolumab Combination Therapy vs. Single Agent Nivolumab for the Treatment of TFE/Translocation Renal Cell Carcinoma (tRCC) Across All Age Groups Suspended NCT03595124 Phase 2 Axitinib

Search NIH Clinical Center for Renal Cell Carcinoma, Xp11-Associated

Genetic Tests for Renal Cell Carcinoma, Xp11-Associated

Genetic tests related to Renal Cell Carcinoma, Xp11-Associated:

# Genetic test Affiliating Genes
1 Renal Cell Carcinoma, Xp11-Associated 29 TFE3
2 Mit Family Translocation Renal Cell Carcinoma 29

Anatomical Context for Renal Cell Carcinoma, Xp11-Associated

MalaCards organs/tissues related to Renal Cell Carcinoma, Xp11-Associated:

40
Kidney, Breast

Publications for Renal Cell Carcinoma, Xp11-Associated

Articles related to Renal Cell Carcinoma, Xp11-Associated:

(show all 19)
# Title Authors PMID Year
1
Xp11 translocation renal cell carcinoma. 57
20438411 2010
2
A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). 57
12917640 2003
3
Five new cases of juvenile renal cell carcinoma with translocations involving Xp11.2: a cytogenetic and morphologic study. 57
12781442 2003
4
Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. 57
11358836 2001
5
Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature. 57
10506710 1999
6
Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. 57
9393982 1997
7
Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. 57
8986805 1996
8
The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. 57
8872474 1996
9
Stimulator of interferon genes (STING) immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. 61
33461798 2021
10
Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case. 61
32474730 2020
11
Secondary renal neoplasia following chemotherapy or radiation in pediatric patients. 61
32681944 2020
12
Microphthalmia family of transcription factors associated renal cell carcinoma. 61
31768316 2019
13
MiT Family Translocation Renal Cell Carcinoma: from the Early Descriptions to the Current Knowledge. 61
31382581 2019
14
NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma. 61
30622287 2019
15
TFE3-Expressing Perivascular Epithelioid Cell Tumor of the Breast. 61
30269476 2019
16
Novel gene fusion of PRCC-MITF defines a new member of MiT family translocation renal cell carcinoma: clinicopathological analysis and detection of the gene fusion by RNA sequencing and FISH. 61
29148086 2018
17
MiT family translocation renal cell carcinoma after malignant infantile osteopetrosis in childhood: a case report. 61
31949762 2018
18
Translocation Renal Cell Carcinoma: An Update on Clinicopathological and Molecular Features. 61
28850056 2017
19
MiT family translocation renal cell carcinoma. 61
25758327 2015

Variations for Renal Cell Carcinoma, Xp11-Associated

Cosmic variations for Renal Cell Carcinoma, Xp11-Associated:

9 (show top 50) (show all 2064)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87583829 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.7085G>A p.R2362Q 9:107003322-107003322 3
2 COSM109100722 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.3803G>A p.R1268Q 9:107003322-107003322 3
3 COSM151995781 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 1:200407613-200407613 3
4 COSM93625940 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 1:200407613-200407613 3
5 COSM93623781 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.1985C>T p.P662L 1:200407613-200407613 3
6 COSM140954956 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 19:44131801-44131801 3
7 COSM140688909 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.*968G>T p.? 19:44131801-44131801 3
8 COSM85326448 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 19:44131801-44131801 3
9 COSM112895347 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3811G>T p.D1271Y 2:218642705-218642705 3
10 COSM105902090 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3811G>T p.D1271Y 2:218642705-218642705 3
11 COSM102023492 ZFHX3 kidney,NS,carcinoma,papillary renal cell carcinoma c.-23-6591T>C p.? 16:72957556-72957556 3
12 COSM87285263 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 3
13 COSM149301355 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 3
14 COSM102035738 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.1767G>T p.Q589H 16:72798173-72798173 3
15 COSM87274574 ZFHX3 kidney,NS,carcinoma,papillary renal cell carcinoma c.2590T>C p.Y864H 16:72957556-72957556 3
16 COSM149269629 ZFHX3 kidney,NS,carcinoma,papillary renal cell carcinoma c.2590T>C p.Y864H 16:72957556-72957556 3
17 COSM89411866 ZBTB2 kidney,NS,carcinoma,papillary renal cell carcinoma c.931G>A p.E311K 6:151366135-151366135 3
18 COSM87436198 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1299C>A p.F433L 13:20809842-20809842 3
19 COSM105761507 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1299C>A p.F433L 13:20809842-20809842 3
20 COSM104888966 XPO1 kidney,NS,carcinoma,papillary renal cell carcinoma c.259A>G p.I87V 2:61522653-61522653 3
21 COSM104241577 XPO1 kidney,NS,carcinoma,papillary renal cell carcinoma c.259A>G p.I87V 2:61522653-61522653 3
22 COSM101982001 XPO1 kidney,NS,carcinoma,papillary renal cell carcinoma c.259A>G p.I87V 2:61522653-61522653 3
23 COSM136040220 XKR7 kidney,NS,carcinoma,papillary renal cell carcinoma c.1409C>T p.T470M 20:31997126-31997126 3
24 COSM108082894 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 3
25 COSM92179769 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 3
26 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 3
27 COSM101580971 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 14:63599683-63599683 3
28 COSM145076301 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 14:63599683-63599683 3
29 COSM86850934 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 14:63599683-63599683 3
30 COSM90652475 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 3
31 COSM90649111 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3275A>T p.? 3:10146512-10146512 3
32 COSM88295075 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.556G>T p.E186* 3:10149879-10149879 3
33 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 3
34 COSM90649287 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 3
35 COSM90655230 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.264G>C p.W88C 3:10142111-10142111 3
36 COSM88304452 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.443T>C p.F148S 3:10146616-10146616 3
37 COSM88294223 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.499C>T p.R167W 3:10149822-10149822 3
38 COSM88291115 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 3:10142104-10142104 3
39 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 3
40 COSM90650671 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3261T>C p.? 3:10146526-10146526 3
41 COSM90671077 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.400T>G p.Y134D 3:10149846-10149846 3
42 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 3
43 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 3
44 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 3
45 COSM90651486 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 3:10142104-10142104 3
46 COSM90652409 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 3
47 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 3
48 COSM90657935 VHL kidney,NS,carcinoma,renal cell c.362G>T p.C121F 3:10149808-10149808 3
49 COSM90649307 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 3
50 COSM88297049 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111= 3:10142180-10142180 3

Expression for Renal Cell Carcinoma, Xp11-Associated

Search GEO for disease gene expression data for Renal Cell Carcinoma, Xp11-Associated.

Pathways for Renal Cell Carcinoma, Xp11-Associated

Pathways related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 TFE3 PRCC ASPSCR1
2 10.79 TFEB TFE3

GO Terms for Renal Cell Carcinoma, Xp11-Associated

Cellular components related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.43 TFEB TFE3 SFPQ PRCC NONO ASPSCR1
2 nuclear speck GO:0016607 9.33 SFPQ PRCC NONO
3 nuclear matrix GO:0016363 9.32 SFPQ NONO
4 RNA polymerase II transcription factor complex GO:0090575 9.26 SFPQ NONO
5 paraspeckles GO:0042382 8.62 SFPQ NONO

Biological processes related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.67 TFEB TFE3 SFPQ NONO
2 DNA recombination GO:0006310 9.4 SFPQ NONO
3 mRNA splicing, via spliceosome GO:0000398 9.33 SFPQ PRCC NONO
4 regulation of circadian rhythm GO:0042752 9.32 SFPQ NONO
5 humoral immune response GO:0006959 9.26 TFEB TFE3
6 immune system process GO:0002376 9.26 TFEB TFE3 SFPQ NONO
7 activation of innate immune response GO:0002218 8.62 SFPQ NONO

Molecular functions related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.92 TFEB TFE3 SFPQ NONO

Sources for Renal Cell Carcinoma, Xp11-Associated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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