MCID: CLL002
MIFTS: 43

Collecting Duct Carcinoma

Categories: Rare diseases, Cancer diseases, Nephrological diseases

Aliases & Classifications for Collecting Duct Carcinoma

MalaCards integrated aliases for Collecting Duct Carcinoma:

Name: Collecting Duct Carcinoma 12 49 55 14
Renal Medullary Carcinoma 12 49 55
Collecting Duct Carcinoma of the Kidney 49 69
Kidney Medullary Carcinoma 49 69
Bellini Duct Carcinoma 49 55
Bellini Carcinoma 49 55
Bdc 49 55
Cdc 49 55
Renal Carcinoma, Collecting Duct Type 12
Carcinoma of Renal Collecting Duct 12
Renal Collecting Duct Carcinoma 49
Bellini’s Duct Carcinoma 49

Characteristics:

Orphanet epidemiological data:

55
collecting duct carcinoma
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4464
MeSH 41 D002292
NCIt 46 C6194
SNOMED-CT 64 128669006
UMLS via Orphanet 70 C1266044
MESH via Orphanet 42 D002292
ICD10 via Orphanet 33 C64

Summaries for Collecting Duct Carcinoma

NIH Rare Diseases : 49 Collecting duct carcinoma (CDC) is a rare and aggressive form of kidney cancer that begins in the collecting duct of the kidney. Many people with CDC have no signs or symptoms until the cancer is at an advanced stage. Symptoms may include flank pain, unexplained weight loss, or blood in the urine. Although it can affect people of all ages, CDC tends to occur in younger patients. The exact cause of CDC is unknown. It usually occurs in people with no family history of the condition. Treatment options for CDC may include surgery and/or chemotherapy. Last updated: 3/28/2016

MalaCards based summary : Collecting Duct Carcinoma, also known as renal medullary carcinoma, is related to renal cell carcinoma, nonpapillary and clear cell renal cell carcinoma, and has symptoms including flank pain An important gene associated with Collecting Duct Carcinoma is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). The drugs Bexxar and Unituxin have been mentioned in the context of this disorder. Affiliated tissues include kidney, b cells and bone, and related phenotype is homeostasis/metabolism.

Disease Ontology : 12 Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).

Wikipedia : 72 Collecting duct carcinoma (CDC) (also known as Bellini duct carcinoma), is a type of kidney cancer that... more...

Related Diseases for Collecting Duct Carcinoma

Diseases related to Collecting Duct Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 30.6 AMACR KRT7 MME PAX8 PBRM1 SETD2
2 clear cell renal cell carcinoma 29.7 PBRM1 SETD2
3 spindle cell carcinoma 29.6 AMACR KRT7 VIM
4 renal cell carcinoma, papillary, 1 29.1 AMACR KRT7 MME PAX8
5 chromophobe renal cell carcinoma 29.0 KRT7 MME
6 oncocytoma 28.9 AMACR KRT7 MME VIM
7 brachydactyly, type c 11.2
8 bazex syndrome 11.2
9 porphyria, acute hepatic 11.1
10 renal cell carcinoma, xp11-associated 11.1
11 angioedema, hereditary, type i 10.9
12 epidermolytic hyperkeratosis 10.9
13 platelet membrane fluidity 10.9
14 conotruncal heart malformations 10.9
15 chagas disease 10.9
16 carney complex, type 1 10.7
17 pancreatitis, hereditary 10.7
18 proteus syndrome 10.7
19 thrombophilia due to thrombin defect 10.7
20 citrullinemia, classic 10.7
21 duane-radial ray syndrome 10.7
22 traumatic brain injury 10.7
23 clostridium difficile colitis 10.7
24 anogenital venereal wart 10.7
25 rabies 10.7
26 tetanus 10.7
27 hantavirus pulmonary syndrome 10.7
28 ebola hemorrhagic fever 10.7
29 pulmonary embolism 10.7
30 toxocariasis 10.7
31 acute flaccid myelitis 10.7
32 congenital rubella 10.7
33 congenital zika syndrome 10.7
34 nodding syndrome 10.7
35 zika virus infection 10.7
36 rhabdoid meningioma 10.4 SMARCB1 VIM
37 parachordoma 10.3 KRT7 VIM
38 adenoid squamous cell carcinoma 10.3 KRT7 VIM
39 malignant mixed mullerian tumor 10.3 KRT7 VIM
40 nodular hidradenoma 10.3 KRT7 VIM
41 papillary adenoma 10.3 KRT7 VIM
42 eccrine porocarcinoma 10.3 KRT7 VIM
43 benign metastasizing leiomyoma 10.3 KRT7 VIM
44 monophasic synovial sarcoma 10.3 KRT7 VIM
45 medulloepithelioma 10.3 KRT7 VIM
46 adenomatoid tumor 10.3 KRT7 VIM
47 vulvar sarcoma 10.3 KRT7 SMARCB1
48 nephrogenic adenoma of urinary bladder 10.3 KRT7 PAX8
49 bladder benign neoplasm 10.3 KRT7 PAX8
50 hidradenoma 10.3 KRT7 VIM

Graphical network of the top 20 diseases related to Collecting Duct Carcinoma:



Diseases related to Collecting Duct Carcinoma

Symptoms & Phenotypes for Collecting Duct Carcinoma

UMLS symptoms related to Collecting Duct Carcinoma:


flank pain

MGI Mouse Phenotypes related to Collecting Duct Carcinoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 AMACR KRT7 MME OCRL PAX8 SETD2

Drugs & Therapeutics for Collecting Duct Carcinoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Bexxar 17 45 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
2
Unituxin 17 45 DINUTUXIMAB United Therapeutics March 2015

Drugs for Collecting Duct Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
2
Bevacizumab Approved, Investigational Phase 2 216974-75-3
3
Gemcitabine Approved Phase 2 95058-81-4 60750
4
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
5
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
6
Everolimus Approved Phase 2 159351-69-6 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
11
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
12 Angiogenesis Inhibitors Phase 2
13 Angiogenesis Modulating Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antiviral Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Micronutrients Phase 2
20 Nicotinic Acids Phase 2
21 Protein Kinase Inhibitors Phase 2
22 Trace Elements Phase 2
23 Vitamin B Complex Phase 2
24 Vitamins Phase 2
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Antifungal Agents Phase 2
28 Folate Nutraceutical Phase 2
29 Vitamin B3 Nutraceutical Phase 2
30 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial Of Sunitinib In Advanced Non-Clear Cell Type Renal Cell Carcinoma Unknown status NCT01219751 Phase 2 Sunitinib
2 Sunitinib Malate in Patients With Non-Clear Cell Renal Cell Cancer Completed NCT00465179 Phase 2 Sunitinib Malate
3 Study of Gemcitabine+Platinium Salt+Bevacizumab Combination for Metastatic Collecting Duct Carcinoma (GETUG-AFU 24) Recruiting NCT02363751 Phase 2 Bevacizumab
4 caBozantinib in cOllectiNg ductS Renal Cell cArcInoma Recruiting NCT03354884 Phase 2 Cabometyx
5 Sorafenib Combined With Chemotherapy for Renal Collecting Duct Carcinoma Active, not recruiting NCT01762150 Phase 2 Sorafenib;Gemcitabine;Cisplatin
6 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Active, not recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
7 Everolimus Versus Sunitinib in Non-Clear Cell Renal Cell Carcinoma Active, not recruiting NCT01185366 Phase 2 Everolimus;Sunitinib

Search NIH Clinical Center for Collecting Duct Carcinoma

Genetic Tests for Collecting Duct Carcinoma

Anatomical Context for Collecting Duct Carcinoma

MalaCards organs/tissues related to Collecting Duct Carcinoma:

38
Kidney, B Cells, Bone, Thyroid, Salivary Gland

Publications for Collecting Duct Carcinoma

Articles related to Collecting Duct Carcinoma:

(show top 50) (show all 130)
# Title Authors Year
1
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma. ( 29309300 )
2018
2
Collecting duct carcinoma of the kidney: Disease characteristics and treatment outcomes from the National Cancer Database. ( 28495554 )
2017
3
Sarcomatoid Renal Cell Carcinoma and Collecting Duct Carcinoma: Discrimination From Common Renal Cell Carcinoma Subtypes and Benign RCC Mimics on Multiphasic MDCT. ( 28528853 )
2017
4
Collecting Duct Carcinoma of the Native Kidney in a Renal Transplant Recipient. ( 29062581 )
2017
5
A Case of Metastatic Collecting Duct Carcinoma Whose Massive Skull Bone Metastasis was Prominently Reossified by Gemcitabine Plus Cisplatin Chemotherapy Combined with Zoledronic Acid. ( 28932690 )
2017
6
Clinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas. ( 28181950 )
2017
7
Response to nivolumab in metastatic collecting duct carcinoma expressing PD-L1: A case report. ( 29285361 )
2017
8
Anti-programmed Death Receptor 1 Blockade Induces Clinical Response in a Patient With Metastatic Collecting Duct Carcinoma. ( 27021586 )
2016
9
Targeted Therapy in Collecting Duct Carcinoma of the Kidney: A Case Report and Literature Review. ( 26684811 )
2016
10
Enhanced MRI and 18F-FDG PET/CT Findings of Preoperative Primary Renal Collecting Duct Carcinoma. ( 27775947 )
2016
11
Collecting Duct Carcinoma With Cardiac Metastases: A Case Report &A Literature Review. ( 26977410 )
2016
12
Collecting duct carcinoma of the kidney is associated with CDKN2A deletion and SLC family gene up-regulation. ( 27144525 )
2016
13
A renal adenocarcinoma in a corn snake (Pantherophis guttatus) resembling human collecting duct carcinoma. ( 27493139 )
2016
14
Comparative study of CT appearances in mucinous tubular and spindle cell carcinoma and collecting duct carcinoma of the kidney. ( 26435393 )
2015
15
Characterization of Clinical Cases of Collecting Duct Carcinoma of the Kidney Assessed by Comprehensive Genomic Profiling. ( 26149668 )
2015
16
Retraction Note: Collecting duct carcinoma of the kidney: a clinicopathological study of five cases. ( 25884188 )
2015
17
Papillary renal cell carcinoma and collecting duct carcinoma combination. A case report and review of synchronous renal cell carcinoma subtypes in the same kidney. ( 26170866 )
2015
18
Collecting duct carcinoma of the kidney: A case report. ( 26137167 )
2015
19
Clinical features and treatment of collecting duct carcinoma of the kidney from the korean cancer study group genitourinary and gynecology cancer committee. ( 24851105 )
2014
20
Composite chromophobe renal cell carcinoma with sarcomatoid differentiation containing osteosarcoma, chondrosarcoma, squamous metaplasia and associated collecting duct carcinoma: a case report. ( 25291862 )
2014
21
A collecting duct carcinoma producing carcinoembryonic antigen and Ca-125 in a 29-year-old woman. ( 24531923 )
2014
22
Collecting duct carcinoma versus renal medullary carcinoma: an appeal for nosologic and biological clarity. ( 24805860 )
2014
23
Collision tumor of the kidney composed of clear cell carcinoma and collecting duct carcinoma: report of a case with unusual morphology and clinical follow-up. ( 24589208 )
2014
24
Collecting duct carcinoma of the kidney: Imaging observations of a rare tumor. ( 24396480 )
2014
25
Collecting duct carcinoma of the kidney. A contribution of 4 new cases. ( 25306992 )
2014
26
Treatment of collecting duct carcinoma: current status and future perspectives. ( 24511050 )
2014
27
Triple combination of bevacizumab, gemcitabine and platinum salt in metastatic collecting duct carcinoma. ( 24190963 )
2013
28
Salivary gland-type renal carcinoma, a subset of collecting duct carcinoma: case report and meta-analysis of the entity. ( 23339365 )
2013
29
Active targeted therapy for metastatic collecting duct carcinoma of the kidney: a case report and review of the literature. ( 23686671 )
2013
30
Management of renal collecting duct carcinoma: a systematic review and the McMaster experience. ( 23737692 )
2013
31
The MSCT and MRI findings of collecting duct carcinoma. ( 23726725 )
2013
32
The multislice CT findings of renal carcinoma associated with XP11.2 translocation/TFE gene fusion and collecting duct carcinoma. ( 23446748 )
2013
33
Collecting duct carcinoma: a rare malignancy. ( 23575082 )
2013
34
Collecting duct carcinoma of the kidney: a clinicopathological study of five cases. ( 23773436 )
2013
35
Renal collecting duct carcinoma with extensive coagulative necrosis mimicking anemic infarct: report of a case and the literature review. ( 23866935 )
2013
36
Renal collecting duct carcinoma: report of a case with unusual imaging findings regarding renal function. ( 23771391 )
2013
37
Collecting duct carcinoma: a rare renal tumor. ( 22805397 )
2012
38
Distal ureteral seeding metastasis of collecting duct carcinoma manifesting as deep vein thrombosis. ( 22513238 )
2012
39
Thyroid transcription factor 1 expression in a case of renal collecting duct carcinoma. ( 22703591 )
2012
40
HER2 blockade in metastatic collecting duct carcinoma (CDC) of the kidney: a case report. ( 23207624 )
2012
41
Collecting duct carcinoma presenting uncommon metastatic features. ( 23235769 )
2012
42
A case report of collecting duct carcinoma of the kidney coexistent with giant adrenal myelolipoma. ( 22511446 )
2012
43
Tubulocystic renal carcinoma (low grade collecting duct carcinoma). ( 23154610 )
2012
44
Metastatic collecting duct carcinoma of the kidney treated with sunitinib. ( 21752265 )
2011
45
Metastatic collecting duct carcinoma of the kidney responded to sunitinib. ( 20686910 )
2011
46
Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma. ( 21705046 )
2011
47
Retraction: Metastatic collecting duct carcinoma of the kidney treated with Sunitinib. ( 22024397 )
2011
48
Inhibition of pleural metastasis of collecting duct carcinoma of the kidney by modified cytokine-induced killer cells: A case report and review of the literature. ( 22870094 )
2010
49
Sarcomatoid collecting duct carcinoma of kidney diagnosed with urine and renal pelvic lavage cytology. ( 20014307 )
2010
50
Undiagnosed collecting duct carcinoma presenting as meningeal carcinomatosis and multiple bone metastases. ( 20686287 )
2010

Variations for Collecting Duct Carcinoma

Cosmic variations for Collecting Duct Carcinoma:

9 (show all 21)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 30
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 30
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 30
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 30
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 30
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 30
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 30
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 30
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 30
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 30
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 30
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 30
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 30
14 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 28
15 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 28
16 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 28
17 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 28
18 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 28
19 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 28
20 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 28
21 COSM52899 PBRM1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3805A>T p.K1269* 28

Expression for Collecting Duct Carcinoma

Search GEO for disease gene expression data for Collecting Duct Carcinoma.

Pathways for Collecting Duct Carcinoma

GO Terms for Collecting Duct Carcinoma

Biological processes related to Collecting Duct Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 8.8 PBRM1 SETD2 SMARCB1

Sources for Collecting Duct Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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