MCID: CHL010
MIFTS: 38

Childhood Kidney Cell Carcinoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Childhood Kidney Cell Carcinoma

MalaCards integrated aliases for Childhood Kidney Cell Carcinoma:

Name: Childhood Kidney Cell Carcinoma 12 15
Pediatric Renal Cell Carcinoma 12
Childhood Renal Cell Carcinoma 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4454
NCIt 49 C6568
UMLS 71 C1333001

Summaries for Childhood Kidney Cell Carcinoma

MalaCards based summary : Childhood Kidney Cell Carcinoma, also known as pediatric renal cell carcinoma, is related to renal cell carcinoma, nonpapillary and alveolar soft part sarcoma, and has symptoms including flank pain An important gene associated with Childhood Kidney Cell Carcinoma is TFE3 (Transcription Factor Binding To IGHM Enhancer 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Bacterial invasion of epithelial cells. The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and liver, and related phenotype is pigmentation.

Related Diseases for Childhood Kidney Cell Carcinoma

Diseases related to Childhood Kidney Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 29.7 TFEB TFE3 PRCC MITF
2 alveolar soft part sarcoma 28.8 TFEC TFEB TFE3 PRCC ASPSCR1
3 renal cell carcinoma, papillary, 1 28.1 TFEB TFE3 PRCC MITF CLTC ASPSCR1
4 eosinophilic variant of chromophobe renal cell carcinoma 10.3 TFEB TFE3
5 clear cell papillary renal cell carcinoma 10.2 TFE3 MITF
6 neuroblastoma 10.2
7 uterus perivascular epithelioid cell tumor 10.2 TFE3 MITF
8 autosomal dominant non-syndromic intellectual disability 19 10.2 TFE3 MITF
9 albinism, ocular, with late-onset sensorineural deafness 10.1 TFE3 MITF
10 chromophil adenoma of the kidney 10.1 TFE3 PRCC
11 familial renal papillary carcinoma 10.1 TFE3 PRCC
12 mucinous tubular and spindle renal cell carcinoma 10.1 TFE3 PRCC
13 renal adenoma 10.1 TFE3 PRCC
14 papillary adenoma 10.1 TFE3 PRCC
15 kidney angiomyolipoma 10.1 TFE3 PRCC
16 metanephric adenoma 10.1 TFE3 PRCC
17 waardenburg syndrome, type 4b 10.1 TFEB MITF
18 waardenburg syndrome, type 2e 10.0 TFEC MITF
19 wilms tumor 5 10.0
20 kidney benign neoplasm 10.0 TFE3 PRCC
21 cardiovascular cancer 10.0 TFE3 MITF
22 tietz albinism-deafness syndrome 10.0 TFEC MITF
23 vascular cancer 10.0 TFE3 MITF
24 birt-hogg-dube syndrome 10.0 TFE3 PRCC
25 perivascular epithelioid cell tumor 10.0 TFE3 MITF ASPSCR1
26 pycnodysostosis 9.9 TFEB TFE3 MITF
27 angiomyolipoma 9.9 TFEB TFE3 MITF
28 skeletal muscle cancer 9.9 TFE3 ASPSCR1
29 osteopetrosis 9.9 TFEB TFE3 MITF
30 clear cell sarcoma 9.9 TFE3 MITF
31 pediatric fibrosarcoma 9.8 TPM3 TFE3
32 oncocytoma 9.8
33 leukemia, acute lymphoblastic 9.8
34 acute cystitis 9.8
35 leiomyosarcoma 9.8
36 adenocarcinoma 9.8
37 clear cell renal cell carcinoma 9.8
38 chromophobe renal cell carcinoma 9.8
39 supratentorial primitive neuroectodermal tumor 9.8
40 polycythemia 9.8
41 lymph node disease 9.8
42 chromophil renal cell carcinoma 9.8
43 soft tissue sarcoma 9.8
44 muscle cancer 9.8 TFE3 ASPSCR1
45 waardenburg syndrome, type 2a 9.7 TFEC TFEB TFE3 MITF
46 microphthalmia 9.6 TFEC TFEB TFE3 MITF
47 mesenchymal cell neoplasm 9.5 TPM3 TFE3 CLTC
48 renal cell carcinoma, xp11-associated 9.3 TFEB TFE3 PRCC CLTC ASPSCR1

Graphical network of the top 20 diseases related to Childhood Kidney Cell Carcinoma:



Diseases related to Childhood Kidney Cell Carcinoma

Symptoms & Phenotypes for Childhood Kidney Cell Carcinoma

UMLS symptoms related to Childhood Kidney Cell Carcinoma:


flank pain

MGI Mouse Phenotypes related to Childhood Kidney Cell Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 MITF TFE3 TFEB TFEC

Drugs & Therapeutics for Childhood Kidney Cell Carcinoma

Drugs for Childhood Kidney Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
2
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
3
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
4
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
5
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
6
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
7
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904 498142
8 Antibiotics, Antitubercular Phase 2
9
Liposomal doxorubicin Phase 2 31703
10 Anti-Infective Agents Phase 2
11 Anti-Bacterial Agents Phase 2
12 topoisomerase I inhibitors Phase 2
13 Tubulin Modulators Phase 2
14 Antirheumatic Agents Phase 2
15 Antimitotic Agents Phase 2
16 Protein Kinase Inhibitors Phase 1, Phase 2
17
Ifosfamide Approved Phase 1 3778-73-2 3690
18
Etoposide Approved Phase 1 33419-42-0 36462
19
Mesna Approved, Investigational Phase 1 3375-50-6 598
20
Lenograstim Approved, Investigational Phase 1 135968-09-1
21
Sargramostim Approved, Investigational Phase 1 83869-56-1, 123774-72-1
22
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
23
Busulfan Approved, Investigational Phase 1 55-98-1 2478
24
Melphalan Approved Phase 1 148-82-3 460612 4053
25 Molgramostim Investigational Phase 1 99283-10-0
26 Cola Phase 1
27 Vaccines Phase 1
28 Etoposide phosphate Phase 1
29 Alkylating Agents Phase 1
30
Isophosphamide mustard Phase 1 0
31 Liver Extracts Phase 1
32 Immunologic Factors Phase 1
33 Immunosuppressive Agents Phase 1
34 Protective Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
2 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
3 A Pilot Study of Irradiated HLA-Partially Matched Allogeneic Related Donor Lymphocytes for Patients With Selected Malignancies Completed NCT00161187 Phase 1
4 Dose Escalation of Total Marrow Irradiation Added to an Alkylator-Intense Conditioning Regimen for Patients With High Risk or Relapsed Solid Tumors Terminated NCT00623077 Phase 1 busulfan;etoposide;ifosfamide;melphalan;thiotepa;Mesna
5 Assessment of Patterns of Expression of VEGF, Matrix Metalloproteinase 2, 9 Activity, E-Cadherin Regulation and CA-9 Activity as Predictors of Aggressive Renal Cell Carcinoma Behavior Withdrawn NCT00908739

Search NIH Clinical Center for Childhood Kidney Cell Carcinoma

Genetic Tests for Childhood Kidney Cell Carcinoma

Anatomical Context for Childhood Kidney Cell Carcinoma

MalaCards organs/tissues related to Childhood Kidney Cell Carcinoma:

40
Kidney, Lymph Node, Liver

Publications for Childhood Kidney Cell Carcinoma

Articles related to Childhood Kidney Cell Carcinoma:

(show all 43)
# Title Authors PMID Year
1
LncRNA SCAMP1 regulates ZEB1/JUN and autophagy to promote pediatric renal cell carcinoma under oxidative stress via miR-429. 61
31550675 2019
2
Pediatric renal cell carcinoma. 61
31261184 2019
3
Treatment of advanced pediatric renal cell carcinoma. 61
31012542 2019
4
Lymph node imaging of pediatric renal and suprarenal malignancies. 61
30456181 2018
5
Nephron-sparing surgery in the treatment of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions. 61
28365106 2017
6
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. 61
27748010 2017
7
[Secondary TFE3-associated renal cell carcinoma in a child treated for Ewing sarcoma]. 61
26702489 2016
8
BRAF mutations in pediatric metanephric tumors. 61
26014474 2015
9
Characterization of adolescent and pediatric renal cell carcinoma: A report from the Children's Oncology Group study AREN03B2. 61
25845370 2015
10
Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions. 61
24726108 2014
11
Persistent complete response after single-agent sunitinib treatment in a case of TFE translocation positive relapsed metastatic pediatric renal cell carcinoma. 61
22995920 2013
12
A robotic-assisted laparoscopic approach for pediatric renal cell carcinoma allows for both nephron-sparing surgery and extended lymph node dissection. 61
23084214 2012
13
Long-term graft-versus-tumor effect following reduced intensity hematopoietic stem cell transplantation in a child with metastatic renal cell carcinoma. 61
22231905 2012
14
Identification of anaplastic lymphoma kinase fusions in renal cancer: large-scale immunohistochemical screening by the intercalated antibody-enhanced polymer method. 61
22252991 2012
15
CT and MRI appearances and radiologic staging of pediatric renal cell carcinoma. 61
22249598 2012
16
PAX2 expression in Wilms tumors and other childhood neoplasms. 61
21730820 2011
17
Papillary renal cell carcinoma: report of a rare entity in childhood with review of the clinical management. 61
21683189 2011
18
Pediatric Renal Cell Carcinoma. 61
21057600 2010
19
Pediatric renal cell carcinoma. 61
19443274 2009
20
Pediatric genitourinary tumors. 61
19295433 2009
21
Retroperitoneal lymph node dissection for pediatric renal cell carcinoma. 61
19003909 2009
22
Local lymph node involvement in pediatric renal cell carcinoma: a report from the Italian TREP project. 61
18561180 2008
23
[Pediatric renal cell carcinoma. A rare differential diagnosis of Wilms' tumor]. 61
18210066 2008
24
Cytologic and cytogenetic diagnosis of pediatric renal cell carcinoma associated with t(X;17). 61
18540314 2008
25
Translocation renal cell carcinoma: lack of negative impact due to lymph node spread. 61
18278810 2008
26
Pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. 61
18203790 2008
27
Pediatric renal cell carcinoma as second malignancy: reports of two cases and a review of the literature. 61
18163925 2007
28
Pediatric renal cell carcinoma with oncocytoid features occurring in a child after chemotherapy for cardiac leiomyosarcoma. 61
17656235 2007
29
Renal cell carcinoma with t(X;17)(p11.2;q25) in a 6-year-old Taiwanese boy. 61
17149613 2007
30
Cytogenetic findings in pediatric renal cell carcinoma. 61
17284375 2007
31
Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the mit transcription factor family. 61
16880148 2006
32
Pediatric renal cell carcinoma: single institution 25-year case series and initial experience with partial nephrectomy. 61
16516019 2006
33
Renal cell carcinoma: Children's Hospital Boston experience. 61
16360460 2005
34
Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins. 61
16328670 2005
35
Pediatric renal-cell carcinoma. 61
15880715 2005
36
Pediatric renal tumors: practical updates for the pathologist. 61
16010493 2005
37
Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma. 61
15674850 2005
38
Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma. 61
15378495 2004
39
[Pediatric renal cell carcinoma]. 61
15168078 2004
40
Renal cell carcinoma in children: experience at a single institution in Japan. 61
10492224 1999
41
Partial nephrectomy for pediatric renal cell carcinoma: an unusual case presentation. 61
9123719 1997
42
Pediatric renal cell carcinoma: a complete response to recombinant interleukin-2 in a child with metastatic disease at diagnosis. 61
8058009 1994
43
Developmental pattern of Thy-1 immunoreactivity in the human kidney and the application to pediatric renal neoplasms. 61
8097308 1993

Variations for Childhood Kidney Cell Carcinoma

Cosmic variations for Childhood Kidney Cell Carcinoma:

9 (show top 50) (show all 852)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 6
2 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 6
3 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 6
4 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 6
5 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 6
6 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 6
7 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 6
8 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 6
9 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 6
10 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 6
11 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 6
12 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 6
13 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 6
14 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 6
15 COSM87037342 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 6
16 COSM87037337 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 6
17 COSM87037202 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 6
18 COSM87030528 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 6
19 COSM87037219 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 6
20 COSM87037265 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 6
21 COSM87049432 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 6
22 COSM87037238 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 6
23 COSM87037320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 6
24 COSM87036869 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 6
25 COSM87037346 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 6
26 COSM87037324 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1189C>T p.Q397* 16:2061940-2061940 6
27 COSM87036879 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 6
28 COSM85719503 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 6
29 COSM85723777 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 6
30 COSM85727708 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 6
31 COSM85723822 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 6
32 COSM85723770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 6
33 COSM89062698 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 6
34 COSM87921270 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.673-1G>T p.? 17:7674291-7674291 6
35 COSM88453050 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.97-2A>C p.? 17:7676274-7676274 6
36 COSM87908091 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.404G>T p.C135F 17:7675208-7675208 6
37 COSM87935614 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.738G>A p.M246I 17:7674225-7674225 6
38 COSM87898709 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.742C>T p.R248W 17:7674221-7674221 6
39 COSM87912624 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.374C>G p.T125R 17:7675995-7675995 6
40 COSM84063376 TBX3 kidney,NS,carcinoma,renal cell carcinoma unclassified c.510G>T p.W170C 12:114681026-114681026 6
41 COSM86748896 STAG2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2096+1G>A p.? 23:124065947-124065947 6
42 COSM86759462 STAG2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2860C>T p.R954C 23:124081464-124081464 6
43 COSM86766292 STAG2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1348A>T p.R450* 23:124057909-124057909 6
44 COSM100989027 SPOP kidney,NS,carcinoma,renal cell carcinoma unclassified c.265T>G p.L89V 17:49619321-49619321 6
45 COSM90109955 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1014-2A>T p.? 22:23833570-23833570 6
46 COSM90104263 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1157G>A p.R386H 22:23834152-23834152 6
47 COSM89651052 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3575G>A p.R1192H 19:11033318-11033318 6
48 COSM103036406 SETD2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1409C>A p.S470* 3:47123227-47123227 6
49 COSM103027937 SETD2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2372C>A p.S791* 3:47122264-47122264 6
50 COSM103046610 SETD2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.7431+1G>A p.? 3:47019759-47019759 6

Expression for Childhood Kidney Cell Carcinoma

Search GEO for disease gene expression data for Childhood Kidney Cell Carcinoma.

Pathways for Childhood Kidney Cell Carcinoma

Pathways related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 TFE3 PRCC MITF ASPSCR1
2 11.12 VCL CLTC
3 10.96 TFEB TFE3 MITF
4 10.71 VCL TPM3

GO Terms for Childhood Kidney Cell Carcinoma

Cellular components related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle GO:0030136 8.96 SCAMP1 CLTC
2 nuclear chromatin GO:0000790 8.92 TFEC TFEB TFE3 MITF

Biological processes related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 humoral immune response GO:0006959 8.96 TFEB TFE3
2 regulation of osteoclast differentiation GO:0045670 8.62 TFE3 MITF

Molecular functions related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.65 VCL TPM3 TFEC TFEB TFE3 SCAMP1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 TFEC TFEB TFE3 MITF
3 protein dimerization activity GO:0046983 8.92 TFEC TFEB TFE3 MITF

Sources for Childhood Kidney Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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