MCID: ANL004
MIFTS: 44

Anal Canal Squamous Cell Carcinoma

Categories: Cancer diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Anal Canal Squamous Cell Carcinoma

MalaCards integrated aliases for Anal Canal Squamous Cell Carcinoma:

Name: Anal Canal Squamous Cell Carcinoma 12 15 73
Squamous Cell Carcinoma of the Anal Canal 59

Characteristics:

Orphanet epidemiological data:

59
squamous cell carcinoma of the anal canal
Inheritance: Not applicable;

Classifications:



Summaries for Anal Canal Squamous Cell Carcinoma

Disease Ontology : 12 An anal canal cancer that derives from epithelial squamous cells.

MalaCards based summary : Anal Canal Squamous Cell Carcinoma, also known as squamous cell carcinoma of the anal canal, is related to in situ carcinoma and squamous cell carcinoma. An important gene associated with Anal Canal Squamous Cell Carcinoma is FLT1 (Fms Related Tyrosine Kinase 1), and among its related pathways/superpathways are ERK Signaling and MAPK signaling pathway. The drugs Nivolumab and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and liver, and related phenotypes are abdominal pain and skin ulcer

Related Diseases for Anal Canal Squamous Cell Carcinoma

Diseases related to Anal Canal Squamous Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 in situ carcinoma 29.9 CDKN2A KRT5
2 squamous cell carcinoma 10.6
3 sebaceous gland disease 10.2 NCSTN PSENEN
4 sweat gland disease 10.1 KRT5 NCSTN
5 sarcomatoid squamous cell skin carcinoma 10.1 KRT5 MAPK8IP1
6 vulva squamous cell carcinoma 10.1 CDKN2A SERPINB3
7 vulvar disease 10.1 CDKN2A SERPINB3
8 endocervical carcinoma 10.1 CDKN2A MAPK8IP1
9 inverted transitional papilloma 10.0 CDKN2A KRT5
10 optic nerve sheath meningioma 10.0 CDKN2A KRT5
11 keratinizing squamous cell carcinoma 10.0 CDKN2A KRT5
12 lymphoepithelioma-like thymic carcinoma 10.0 CDKN2A KRT5
13 hidradenitis suppurativa 10.0 NCSTN PSEN1 PSENEN
14 differentiated thyroid carcinoma 10.0 EGF FLT1 VEGFD
15 hidradenitis 10.0 NCSTN PSEN1 PSENEN
16 cervix small cell carcinoma 10.0 CDKN2A MAPK8IP1
17 nasal cavity squamous cell carcinoma 10.0 CDKN2A KRT5
18 anus disease 10.0 CDKN2A SERPINB3
19 necrotizing sialometaplasia 10.0 CDKN2A KRT5
20 pleural cancer 10.0 CDKN2A KRT5
21 optic nerve neoplasm 10.0 CDKN2A KRT5
22 vulva cancer 10.0 CDKN2A SERPINB3
23 tonsil cancer 10.0 CDKN2A KRT5
24 pre-malignant neoplasm 10.0 CDKN2A KRT5
25 rectal disease 10.0 CDKN2A SERPINB3
26 oropharynx cancer 9.9 CDKN2A KRT5
27 anus cancer 9.9 CDKN2A KRT5 SERPINB3
28 cervix carcinoma 9.9 CDKN2A MAPK8IP1
29 reproductive system disease 9.9 CDKN2A EGF MAPK8IP1
30 breast disease 9.8 CDKN2A EGF KRT5
31 esophageal cancer 9.8 CDKN2A EGF FLT1 VEGFD
32 squamous cell carcinoma, head and neck 9.6 CDKN2A EGF VEGFD
33 dowling-degos disease 9.6 EGF ENSG00000188223 KRT5 NCSTN PSENEN

Graphical network of the top 20 diseases related to Anal Canal Squamous Cell Carcinoma:



Diseases related to Anal Canal Squamous Cell Carcinoma

Symptoms & Phenotypes for Anal Canal Squamous Cell Carcinoma

Human phenotypes related to Anal Canal Squamous Cell Carcinoma:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
2 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
3 rectal prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0002035
4 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
5 neoplasm of the rectum 59 32 occasional (7.5%) Occasional (29-5%) HP:0100743
6 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
7 papilloma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012740
8 intestinal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0002584
9 anal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002025
10 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
11 neoplasm of the skeletal system 59 32 occasional (7.5%) Occasional (29-5%) HP:0010622
12 anal canal squamous cell carcinoma 59 32 obligate (100%) Obligate (100%) HP:0030438

MGI Mouse Phenotypes related to Anal Canal Squamous Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.23 CDKN2A EGF FLT1 KRT5 MAPK8IP1 NCSTN

Drugs & Therapeutics for Anal Canal Squamous Cell Carcinoma

Drugs for Anal Canal Squamous Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nivolumab Approved Phase 2 946414-94-4
2
Fluorouracil Approved Phase 2 51-21-8 3385
3
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
4 Antibodies Phase 2
5 Immunoglobulins Phase 2
6 Immunologic Factors Phase 2
7 Antibodies, Monoclonal Phase 2
8 Antimetabolites, Antineoplastic Phase 2
9 Antimetabolites Phase 2
10 Immunosuppressive Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nivolumab With or Without Ipilimumab in Treating Patients With Refractory Metastatic Anal Canal Cancer Recruiting NCT02314169 Phase 2
2 LET-IMPT and Standard Chemotherapy in Treating Patients With Newly Diagnosed Stage I-III Anal Canal Squamous Cell Cancer Recruiting NCT03690921 Phase 2 Cisplatin;Fluorouracil
3 Multi-Omic Assessment of Squamous Cell Cancers Receiving Systemic Therapy Not yet recruiting NCT03712566

Search NIH Clinical Center for Anal Canal Squamous Cell Carcinoma

Genetic Tests for Anal Canal Squamous Cell Carcinoma

Anatomical Context for Anal Canal Squamous Cell Carcinoma

MalaCards organs/tissues related to Anal Canal Squamous Cell Carcinoma:

41
Lung, Skin, Liver, Endothelial, Lymph Node, Tonsil, Cervix

Publications for Anal Canal Squamous Cell Carcinoma

Articles related to Anal Canal Squamous Cell Carcinoma:

# Title Authors Year
1
Prognostic value of serum CYFRA 21-1 1 in patients with anal canal squamous cell carcinoma treated with radio(chemo)therapy. ( 29653564 )
2018
2
Extended-Field Chemoradiation Therapy for Definitive Treatment of Anal Canal Squamous Cell Carcinoma Involving the Para-Aortic Lymph Nodes. ( 29907489 )
2018
3
The use of "QUAD Shot" in Anal Canal Squamous Cell Carcinoma: A Case Study with Review of the Literature. ( 30403973 )
2018
4
The prospect of endoscopic submucosal dissection for early anal canal squamous cell carcinoma. ( 27738909 )
2016
5
Superficial anal canal squamous cell carcinoma diagnosed using narrow-band imaging and treated by endoscopic submucosal dissection. ( 25801993 )
2015
6
Education and Imaging. Gastrointestinal: advanced untreated anal canal squamous cell carcinoma. ( 23692575 )
2013
7
Establishment and characterization of the human SaTM-1 anal canal squamous cell carcinoma cell line derived from lymph node metastasis. ( 19724886 )
2009
8
Evidence of clinical activity for cetuximab combined with irinotecan in a patient with refractory anal canal squamous-cell carcinoma: report of a case. ( 17252287 )
2007
9
F-18 FDG PET/CT imaging of anal canal squamous cell carcinoma. ( 17314608 )
2007
10
Anal canal squamous-cell carcinoma in situ, clearly demonstrated by indigo carmine dye spraying: report of a case. ( 10950017 )
2000

Variations for Anal Canal Squamous Cell Carcinoma

Expression for Anal Canal Squamous Cell Carcinoma

Search GEO for disease gene expression data for Anal Canal Squamous Cell Carcinoma.

Pathways for Anal Canal Squamous Cell Carcinoma

Pathways related to Anal Canal Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 CDKN2A EGF FLT1 MAPK8IP1 NCSTN PSEN1
2 12.48 EGF FLT1 MAPK8IP1 VEGFD
3
Show member pathways
12.11 EGF FLT1 VEGFD
4 11.97 NCSTN PSEN1 PSENEN
5
Show member pathways
11.93 NCSTN PSEN1 PSENEN
6 11.81 NCSTN PSEN1 PSENEN
7
Show member pathways
11.64 EGF NCSTN PSENEN
8
Show member pathways
11.36 NCSTN PSEN1 PSENEN
9 11.17 EGF FLT1
10 11.17 NCSTN PSEN1 PSENEN
11 10.99 NCSTN PSEN1 PSENEN
12 10.82 EGF FLT1 VEGFD
13
Show member pathways
10.66 FLT1 VEGFD
14 10.49 NCSTN PSEN1 PSENEN
15 10.03 NCSTN PSEN1 PSENEN
16 10.02 PSEN1 PSENEN

GO Terms for Anal Canal Squamous Cell Carcinoma

Cellular components related to Anal Canal Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-secretase complex GO:0070765 8.92 ENSG00000188223 NCSTN PSEN1 PSENEN

Biological processes related to Anal Canal Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 EGF FLT1 SERPINB3 VEGFD
2 angiogenesis GO:0001525 9.77 EGF FLT1 VEGFD
3 positive regulation of cell migration GO:0030335 9.76 EGF FLT1 SERPINB3
4 Notch signaling pathway GO:0007219 9.71 NCSTN PSEN1 PSENEN
5 positive regulation of catalytic activity GO:0043085 9.65 NCSTN PSEN1 PSENEN
6 positive regulation of MAP kinase activity GO:0043406 9.61 EGF FLT1 PSEN1
7 activation of MAPKK activity GO:0000186 9.6 EGF PSEN1
8 protein processing GO:0016485 9.58 NCSTN PSEN1 PSENEN
9 positive regulation of phosphorylation GO:0042327 9.57 EGF PSEN1
10 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.56 CDKN2A PSEN1
11 vascular endothelial growth factor signaling pathway GO:0038084 9.55 FLT1 VEGFD
12 membrane protein ectodomain proteolysis GO:0006509 9.54 NCSTN PSEN1 PSENEN
13 negative regulation of JUN kinase activity GO:0043508 9.52 MAPK8IP1 SERPINB3
14 amyloid-beta metabolic process GO:0050435 9.51 NCSTN PSEN1
15 amyloid precursor protein metabolic process GO:0042982 9.5 NCSTN PSEN1 PSENEN
16 epithelial cell proliferation GO:0050673 9.49 NCSTN PSEN1
17 negative regulation of ubiquitin-protein transferase activity GO:0051444 9.46 CDKN2A PSEN1
18 Notch receptor processing GO:0007220 9.43 NCSTN PSEN1 PSENEN
19 amyloid precursor protein catabolic process GO:0042987 9.33 NCSTN PSEN1 PSENEN
20 Notch receptor processing, ligand-dependent GO:0035333 9.13 NCSTN PSEN1 PSENEN
21 amyloid-beta formation GO:0034205 8.8 NCSTN PSEN1 PSENEN

Sources for Anal Canal Squamous Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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