MCID: CYS007
MIFTS: 36

Cystic Nephroma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Cystic Nephroma

MalaCards integrated aliases for Cystic Nephroma:

Name: Cystic Nephroma 12 15 17
Benign Cystic Nephroma 71

Classifications:



External Ids:

Disease Ontology 12 DOID:2673
UMLS 71 C1266138

Summaries for Cystic Nephroma

MalaCards based summary : Cystic Nephroma, also known as benign cystic nephroma, is related to mixed epithelial stromal tumour and pleuropulmonary blastoma. An important gene associated with Cystic Nephroma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are Cytoskeletal Signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Ifosfamide and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are cardiovascular system and cellular

Wikipedia : 74 A cystic nephroma, also known as multilocular cystic nephroma, mixed epithelial stromal tumour (MEST)... more...

Related Diseases for Cystic Nephroma

Diseases in the Cystic Nephroma family:

Malignant Cystic Nephroma

Diseases related to Cystic Nephroma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 mixed epithelial stromal tumour 32.6 MME MEST
2 pleuropulmonary blastoma 31.4 U2AF1 MIRLET7A1 MIR138-1 DICER1 DES
3 kidney sarcoma 30.5 WT1 DICER1
4 spindle cell sarcoma 30.5 VIM DES ACTC1
5 mesenchymoma 30.3 KIT DES
6 cystadenocarcinoma 30.2 VIM PGR ACTC1
7 wilms tumor 1 30.2 WT1 U2AF1 PGR KIT DICER1
8 rare tumor 30.1 KIT DES ACTC1
9 rhabdomyosarcoma 29.7 VIM KIT DICER1 DES ACTC1
10 sarcoma 29.6 WT1 VIM KIT DICER1 ACTC1
11 multinodular goiter 29.6 MIR138-1 KRT19 DICER1
12 angiomyolipoma 29.4 VIM PGR MME KIT DES ACTC1
13 renal cell carcinoma, nonpapillary 29.2 WT1 VIM MME MIRLET7A1 KRT19 KIT
14 renal cell carcinoma, papillary, 1 29.1 WT1 U2AF1 MME KRT19 KIT
15 malignant cystic nephroma 12.6
16 dicer1-related disorders 11.7
17 childhood multilocular cystic kidney neoplasm 11.7
18 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 11.7
19 wilms tumor 5 10.6
20 embryoma 10.5
21 cervical adenomyoma 10.5 PGR MME
22 adenomyoma 10.5 PGR MME
23 breast leiomyoma 10.5 PGR MME
24 calcifying aponeurotic fibroma 10.5 PGR ACTC1
25 eccrine papillary adenocarcinoma 10.5 PGR MME
26 glycogen-rich clear cell breast carcinoma 10.4 PGR ACTC1
27 gynandroblastoma 10.4 VIM DICER1
28 multilocular cystic renal neoplasm of low malignant potential 10.4
29 vaginal endometrial stromal sarcoma 10.4 PGR MME
30 fibroblastic rheumatism 10.4 DES ACTC1
31 lymphangiectasis 10.4 VIM ACTC1
32 pancreatic mucinous cystadenoma 10.4 PGR MME
33 myxoid leiomyosarcoma 10.4 PGR ACTC1
34 bizarre leiomyoma 10.4 PGR ACTC1
35 heart lymphoma 10.4 VIM MME
36 breast myoepithelial carcinoma 10.4 PGR ACTC1
37 intravascular papillary endothelial hyperplasia 10.4 VIM ACTC1
38 cellular leiomyoma 10.4 MME DES
39 endometrial mucinous adenocarcinoma 10.4 VIM PGR
40 glomangiomyoma 10.4 VIM ACTC1
41 infantile digital fibromatosis 10.4 VIM DES
42 cutaneous leiomyosarcoma 10.4 DES ACTC1
43 primitive neuroectodermal tumor of the cervix uteri 10.4 VIM DES
44 epididymal neoplasm 10.4 WT1 MME
45 breast sarcoma 10.4 PGR MME
46 ovarian wilms' cancer 10.4 WT1 MME
47 ovarian seromucinous carcinoma 10.4 WT1 PGR
48 angiocentric glioma 10.4 VIM ACTC1
49 ewing sarcoma of bone 10.4 VIM DES
50 wolffian duct adenocarcinoma 10.4 WT1 MME

Graphical network of the top 20 diseases related to Cystic Nephroma:



Diseases related to Cystic Nephroma

Symptoms & Phenotypes for Cystic Nephroma

MGI Mouse Phenotypes related to Cystic Nephroma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 ACTC1 DES DICER1 KIT KRT19 MEST
2 cellular MP:0005384 9.85 ACTC1 DES DICER1 KIT KRT19 MEST
3 embryo MP:0005380 9.5 DICER1 KIT KRT19 MEST PGR VIM
4 muscle MP:0005369 9.23 ACTC1 DES DICER1 KIT MEST PGR

Drugs & Therapeutics for Cystic Nephroma

Drugs for Cystic Nephroma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
2
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
3
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
4
Mechlorethamine Approved, Investigational Phase 1, Phase 2 51-75-2 4033
5
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
6
Isophosphamide mustard Phase 1, Phase 2 0
7 Alkylating Agents Phase 1, Phase 2
8 Liver Extracts Phase 1, Phase 2
9 Etoposide phosphate Phase 1, Phase 2
10 Protein Kinase Inhibitors Phase 1, Phase 2
11 Topoisomerase Inhibitors Phase 1, Phase 2
12
Cyclophosphamide Approved, Investigational 6055-19-2, 50-18-0 2907
13
Dactinomycin Approved, Investigational 50-76-0 2019 457193
14
Doxorubicin Approved, Investigational 23214-92-8 31703
15
Vincristine Approved, Investigational 57-22-7, 2068-78-2 5978
16
Liposomal doxorubicin 31703

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
2 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
3 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
4 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
5 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
6 Renal Tumors Classification, Biology, and Banking Study Suspended NCT00898365

Search NIH Clinical Center for Cystic Nephroma

Genetic Tests for Cystic Nephroma

Anatomical Context for Cystic Nephroma

MalaCards organs/tissues related to Cystic Nephroma:

40
Kidney, Liver, Lung, Lymph Node, Thyroid, Testes, Neutrophil

Publications for Cystic Nephroma

Articles related to Cystic Nephroma:

(show top 50) (show all 353)
# Title Authors PMID Year
1
DICER1 RELATED EMBRYONAL RHABDOMYOSARCOMA OF THE UTERINE CORPUS IN A PREPUBERTAL GIRL. 61
31838154 2019
2
Open Radical Nephrectomy for Suspected Renal Malignancy-Tips and Tricks. 61
31419431 2019
3
Imaging of DICER1 syndrome. 61
31620849 2019
4
Pleuropulmonary Blastoma: More Than a Lung Neoplasm of Childhood. 61
31527943 2019
5
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2019
6
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 61
30715996 2019
7
[Cystic nephroma : a rare kidney neoplasm]. 61
30897310 2019
8
Contemporary update on imaging of cystic renal masses with histopathological correlation and emphasis on patient management. 61
30314810 2019
9
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors. 61
29698806 2019
10
DICER1 Syndrome. 61
31409088 2019
11
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. 61
30178239 2018
12
Characterization and management of various renal cystic lesions by sonographic features. 61
30017809 2018
13
Sorting the Alphabet Soup of Renal Pathology: A Review. 61
26928791 2018
14
Magnetic resonance imaging (MRI) of the renal sinus. 61
29632991 2018
15
Contrast-enhanced ultrasound of the kidney: a single-institution experience. 61
29218489 2018
16
Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review. 61
30097050 2018
17
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. 61
29881993 2018
18
Cystic nephroma: A case report in adult patients. 61
29799412 2018
19
Tubulocystic renal cell carcinoma: a review of literature focused on radiological findings for differential diagnosis. 61
29796844 2018
20
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61
29315962 2018
21
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. 61
29343557 2018
22
Multiloculated Cystic Renal Tumors of Childhood: Has the Final Word Been Spoken. 61
29386760 2018
23
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? 61
28766837 2018
24
Primary Renal Sarcomas With BCOR-CCNB3 Gene Fusion: A Report of 2 Cases Showing Histologic Overlap With Clear Cell Sarcoma of Kidney, Suggesting Further Link Between BCOR-related Sarcomas of the Kidney and Soft Tissues. 61
28817404 2017
25
The prevalence of DICER1 pathogenic variation in population databases. 61
28748527 2017
26
Pediatric imaging in DICER1 syndrome. 61
28474256 2017
27
Multimorbidity and Genetic Characteristics of DICER1 Syndrome Based on Systematic Review. 61
27906793 2017
28
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. 61
27896549 2017
29
A Case Report of Largest Documented Multilocular Cystic Nephroma Removed by Thoracoabdominal Approach. 61
28892971 2017
30
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. 61
28620008 2017
31
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations. 61
27830405 2017
32
Pediatric Cystic Nephroma Is Morphologically, Immunohistochemically, and Genetically Distinct From Adult Cystic Nephroma. 61
28177962 2017
33
A rare presentation of cystic nephroma in a young adult. 61
29264218 2017
34
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. 61
28222777 2017
35
Mixed Epithelial and Stromal Tumor of the Kidney: Mutation Analysis of the DICER 1 Gene in 29 Cases. 61
26509905 2017
36
Ultrasound Imaging of Cystic Nephroma. 61
28752022 2017
37
Retrospective evaluation of ultrasound-indeterminate renal multilocular cystic masses by using neutrophil-lymphocyte ratio and computed tomography. 61
27671994 2017
38
[Cystic nephroma. Report of two cases and bibliographic review.] 61
28042792 2016
39
Cystic Nephroma in Adults: A Clinicopathologic Study of 46 Cases. 61
27831959 2016
40
Imagistic and histopathological description of a cystic nephroma during early second trimester of gestation. Case report. 61
28845501 2016
41
Pediatric renal and genitourinary tract tumors and the contributions of Dr. Louis "Pepper" Dehner therewith. 61
27720562 2016
42
Multilocular cystic renal cell carcinoma in a 23 year old female. 61
28058005 2016
43
Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney. 61
27036314 2016
44
Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. 61
26928971 2016
45
A Case of Bilateral Cystic Partially Differentiated Nephroblastoma vs Cystic Wilms' Tumor: Highlighting a Diagnostic Dilemma. 61
26850814 2016
46
Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome. 61
26526666 2016
47
Uncommon renal tumors in children: A single center experience. 61
27046976 2016
48
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. 61
26454454 2016
49
Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry. 61
26289771 2016
50
DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association. 61
26555935 2016

Variations for Cystic Nephroma

Expression for Cystic Nephroma

Search GEO for disease gene expression data for Cystic Nephroma.

Pathways for Cystic Nephroma

Pathways related to Cystic Nephroma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.95 VIM KRT19 DES ACTC1
2 11.62 WT1 VIM KRT19
3
Show member pathways
11.47 VIM KRT19 DES
4 11 WT1 VIM MME
5 10.66 VIM DES ACTC1

GO Terms for Cystic Nephroma

Cellular components related to Cystic Nephroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.17 VIM MME MEST KRT19 DICER1 DES

Biological processes related to Cystic Nephroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.46 WT1 VIM KIT ACTC1
2 intermediate filament organization GO:0045109 8.96 VIM DES
3 muscle filament sliding GO:0030049 8.8 VIM DES ACTC1

Molecular functions related to Cystic Nephroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.8 VIM KRT19 DES

Sources for Cystic Nephroma

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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