MCID: ANL004
MIFTS: 45

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 74
Squamous Cell Carcinoma of the Anal Canal 60

Characteristics:

Orphanet epidemiological data:

60
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 PI3K-Akt signaling pathway. The drugs Fluorouracil and Capecitabine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and liver, and related phenotypes are anal canal squamous cell carcinoma and abdominal pain

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 34)
# Related Disease Score Top Affiliating Genes
1 in situ carcinoma 29.8 CDKN2A KRT5
2 squamous cell carcinoma 10.6
3 sebaceous gland disease 10.3 NCSTN PSENEN
4 sweat gland disease 10.2 KRT5 NCSTN
5 sarcomatoid squamous cell skin carcinoma 10.1 KRT5 MAPK8IP1
6 breast carcinoma in situ 10.0 FLT1 KRT5
7 hidradenitis suppurativa 10.0 NCSTN PSEN1 PSENEN
8 hidradenitis 10.0 NCSTN PSEN1 PSENEN
9 vulva squamous cell carcinoma 10.0 CDKN2A SERPINB3
10 vulvar disease 10.0 CDKN2A SERPINB3
11 endocervical carcinoma 10.0 CDKN2A MAPK8IP1
12 inverted transitional papilloma 9.9 CDKN2A KRT5
13 optic nerve sheath meningioma 9.9 CDKN2A KRT5
14 keratinizing squamous cell carcinoma 9.9 CDKN2A KRT5
15 cervix small cell carcinoma 9.9 CDKN2A MAPK8IP1
16 lymphoepithelioma-like thymic carcinoma 9.9 CDKN2A KRT5
17 anus disease 9.9 CDKN2A SERPINB3
18 nasal cavity squamous cell carcinoma 9.9 CDKN2A KRT5
19 necrotizing sialometaplasia 9.9 CDKN2A KRT5
20 vulva cancer 9.9 CDKN2A SERPINB3
21 pleural cancer 9.9 CDKN2A KRT5
22 rectal disease 9.9 CDKN2A SERPINB3
23 optic nerve neoplasm 9.9 CDKN2A KRT5
24 tonsil cancer 9.9 CDKN2A KRT5
25 pre-malignant neoplasm 9.8 CDKN2A KRT5
26 cervix carcinoma 9.8 CDKN2A MAPK8IP1
27 oropharynx cancer 9.8 CDKN2A KRT5
28 anus cancer 9.7 CDKN2A KRT5 SERPINB3
29 dowling-degos disease 9.7 EGF KRT5 NCSTN PSENEN
30 reproductive system disease 9.6 CDKN2A EGF MAPK8IP1
31 cervix disease 9.6 CDKN2A MAPK8IP1
32 esophageal cancer 9.5 CDKN2A EGF FLT1 VEGFD
33 squamous cell carcinoma, head and neck 9.5 CDKN2A EGF VEGFD
34 large intestine cancer 9.4 CDKN2A EGF FLT1

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:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anal canal squamous cell carcinoma 60 33 obligate (100%) Obligate (100%) HP:0030438
2 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
3 lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002716
4 papilloma 60 33 hallmark (90%) Very frequent (99-80%) HP:0012740
5 intestinal bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0002584
6 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
7 rectal prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0002035
8 neoplasm of the lung 60 33 occasional (7.5%) Occasional (29-5%) HP:0100526
9 neoplasm of the rectum 60 33 occasional (7.5%) Occasional (29-5%) HP:0100743
10 anal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002025
11 neoplasm of the liver 60 33 occasional (7.5%) Occasional (29-5%) HP:0002896
12 neoplasm of the skeletal system 60 33 occasional (7.5%) Occasional (29-5%) HP:0010622

MGI Mouse Phenotypes related to Anal Canal Squamous Cell Carcinoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CDKN2A FLT1 KRT5 MAPK8IP1 NCSTN PSEN1
2 growth/size/body region MP:0005378 9.76 CDKN2A EGF FLT1 KRT5 MAPK8IP1 NCSTN
3 immune system MP:0005387 9.5 C1QTNF3 CDKN2A EGF FLT1 NCSTN PSEN1
4 mortality/aging MP:0010768 9.23 CDKN2A FLT1 KRT5 MAPK8IP1 NCSTN PSEN1

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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 2 51-21-8 3385
2
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
3
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 6857599 5310940 9887054 43805
4
nivolumab Approved Phase 2 946414-94-4
5
Ipilimumab Approved Phase 2 477202-00-9
6
Cisplatin Approved Phase 2 15663-27-1 441203 84093 2767
7
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
8
Panitumumab Approved, Investigational Phase 2 339177-26-3 50070211
9
Nimotuzumab Investigational Phase 2 780758-10-3, 828933-61-3
10 Anti-Bacterial Agents Phase 2
11 Antimetabolites Phase 2
12 Immunosuppressive Agents Phase 2
13 Mitomycins Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Immunologic Factors Phase 2
16 Nucleic Acid Synthesis Inhibitors Phase 2
17 Alkylating Agents Phase 2
18 Antibiotics, Antitubercular Phase 2
19 Antineoplastic Agents, Immunological Phase 2
20 Antibodies, Monoclonal Phase 2
21 Immunoglobulins Phase 2
22 Antibodies Phase 2
23 Antimitotic Agents Phase 2
24 taxane Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Substitution of 5-FU (Fluorouracil) by Capecitabine in Scheme of Chemo-radiotherapy in Patients With Squamous Cell Carcinoma of the Anal Canal. Completed NCT01941966 Phase 2 Capecitabine;Mitomycins
2 Capecitabine, Oxaliplatin, and Radiation Therapy in Treating Patients With Stage II or Stage III Anal Cancer Completed NCT00093379 Phase 2 Capecitabine;Oxaliplatin
3 Nivolumab With or Without Ipilimumab in Treating Patients With Refractory Metastatic Anal Canal Cancer Recruiting NCT02314169 Phase 2
4 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
5 Prebiotics and Probiotics During Definitive Treatment With Chemotherapy-radiotherapy SCC of the Anal Canal (BISQUIT) Recruiting NCT03870607 Phase 2
6 Clinical and Biological Interest of Taxanes in Advanced Squamous Cell Anal Carcinoma Active, not recruiting NCT02402842 Phase 2 Docetaxel, Cisplatin and 5-Fluorouracil
7 Phase II Study of Concomitant Intensity-modulated Radiotherapy Combined to Capecitabine, Mitomycin and Panitumumab in Patients With Stage II-IIIB Squamous-cell Carcinoma of the Anal Canal Terminated NCT01843452 Phase 2 MITOMYCIN;CAPECITABINE
8 Nimotuzumab With Radiotherapy in the Treatment of Anal Canal Cancers Terminated NCT01382745 Phase 2 Nimotuzumab
9 Multi-Omic Assessment of Squamous Cell Cancers Receiving Systemic Therapy 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:

42
Lung, Skin, Liver, Lymph Node

Publications for Anal Canal Squamous Cell Carcinoma

Articles related to Anal Canal Squamous Cell Carcinoma:

# Title Authors Year
1
The Use of "QUAD Shot" in Anal Canal Squamous Cell Carcinoma: A Case Study With Review of the Literature. ( 30403973 )
2019
2
Prognostic value of serum CYFRA 21-1 1 in patients with anal canal squamous cell carcinoma treated with radio(chemo)therapy. ( 29653564 )
2018
3
Extended-Field Chemoradiation Therapy for Definitive Treatment of Anal Canal Squamous Cell Carcinoma Involving the Para-Aortic Lymph Nodes. ( 29907489 )
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
Show member pathways
12.68 EGF FLT1 PSEN1 VEGFD
3 12.45 EGF FLT1 MAPK8IP1 VEGFD
4
Show member pathways
12.11 EGF FLT1 VEGFD
5 11.96 NCSTN PSEN1 PSENEN
6
Show member pathways
11.92 NCSTN PSEN1 PSENEN
7 11.79 NCSTN PSEN1 PSENEN
8
Show member pathways
11.64 EGF NCSTN PSENEN
9
Show member pathways
11.36 NCSTN PSEN1 PSENEN
10 11.17 EGF FLT1
11 11.17 NCSTN PSEN1 PSENEN
12 10.99 NCSTN PSEN1 PSENEN
13 10.82 EGF 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 8.8 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 9.87 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 9.7 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 positive regulation of phosphorylation GO:0042327 9.58 EGF PSEN1
9 protein processing GO:0016485 9.58 NCSTN PSEN1 PSENEN
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 negative regulation of JUN kinase activity GO:0043508 9.54 MAPK8IP1 SERPINB3
13 membrane protein ectodomain proteolysis GO:0006509 9.54 NCSTN PSEN1 PSENEN
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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