Anal canal squamous cell carcinoma
disease diseaseOn this page
Also known as squamous cell carcinoma of the anal canal
Summary
Anal canal squamous cell carcinoma (MONDO:0004132) is a cancer and 10 clinical trials. Top therapeutic interventions include retifanlimab, carboplatin, and fludeoxyglucose f 18. A subtype of anal squamous cell carcinoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 12
- Clinical trials: 10
Clinical features
Epidemiology
Prevalence records
23 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.81 | Europe | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.923 | Austria | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.707 | Belgium | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.268 | Bulgaria | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.251 | Croatia | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.568 | Czech Republic | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.6 | Estonia | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.464 | Finland | Validated |
| Annual incidence | 1-9 / 100 000 | 1.096 | France | Validated |
| Annual incidence | 1-9 / 100 000 | 1.307 | Germany | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.809 | Iceland | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.416 | Ireland | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.872 | Italy | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.238 | Latvia | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.153 | Lithuania | Validated |
| Annual incidence | 1-9 / 100 000 | 1.071 | Norway | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.411 | Poland | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.603 | Portugal | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.194 | Slovakia | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.331 | Spain | Validated |
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030438 | Anal canal squamous cell carcinoma | Obligate (100%) |
| HP:0002027 | Abdominal pain | Very frequent (80-99%) |
| HP:0002584 | Intestinal bleeding | Very frequent (80-99%) |
| HP:0002716 | Lymphadenopathy | Very frequent (80-99%) |
| HP:0012740 | Papilloma | Very frequent (80-99%) |
| HP:0002025 | Anal stenosis | Occasional (5-29%) |
| HP:0002035 | Rectal prolapse | Occasional (5-29%) |
| HP:0002896 | Neoplasm of the liver | Occasional (5-29%) |
| HP:0010622 | Neoplasm of the skeletal system | Occasional (5-29%) |
| HP:0100526 | Neoplasm of the lung | Occasional (5-29%) |
| HP:0100743 | Neoplasm of the rectum | Occasional (5-29%) |
| HP:0200042 | Skin ulcer | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | anal canal squamous cell carcinoma |
| Mondo ID | MONDO:0004132 |
| Orphanet | 424019 |
| DOID | DOID:7177 |
| ICD-11 | 585238371 |
| NCIT | C7469 |
| UMLS | C1332262 |
| MedGen | 233979 |
| GARD | 0021774 |
| Anatomy (UBERON) | UBERON:0000159 |
| Is cancer (heuristic) | yes |
Also known as: anal canal squamous cell carcinoma · squamous cell carcinoma of the anal canal
Data availability: 13 cell lines.
Disease family
This is a subtype of anal squamous cell carcinoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease by body system or component › digestive system disorder › intestinal disorder › large intestine disorder › rectal disorder › rectal neoplasm › anus neoplasm › anus cancer › anal carcinoma › anal squamous cell carcinoma › anal canal squamous cell carcinoma
Related subtypes (3): anal margin squamous cell carcinoma, anus basaloid carcinoma, anal verrucous carcinoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 10.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 5 |
| Not specified | 4 |
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04472429 | PHASE3 | COMPLETED | Carboplatin-paclitaxel With Retifanlimab or Placebo in Participants With Locally Advanced or Metastatic Squamous Cell Anal Carcinoma (POD1UM-303/InterAACT 2). |
| NCT02314169 | PHASE2 | ACTIVE_NOT_RECRUITING | Nivolumab With or Without Ipilimumab in Treating Patients With Refractory Metastatic Anal Canal Cancer |
| NCT04166318 | PHASE2 | ACTIVE_NOT_RECRUITING | Lower-Dose Chemoradiation in Treating Patients With Early-Stage Anal Cancer, the DECREASE Study |
| NCT05661188 | PHASE2 | RECRUITING | Tiraglolumab Atezolizumab and Chemoradiotherapy in Localized Anal Carcinoma (TIRANUS) |
| NCT03690921 | PHASE2 | COMPLETED | Linear Energy Transfer (LET)-Optimized Intensity Modulated Proton Therapy (IMPT) as a Component of Definitive Chemoradiation for Newly Diagnosed Squamous Cell Carcinoma of the Anal Canal: a Feasibility Trial |
| NCT04499352 | PHASE2 | WITHDRAWN | A Study to Test BI 754091 Alone or in Combination With BI 836880 in People Who Have Advanced Anal Cancer |
| NCT03712566 | Not specified | ACTIVE_NOT_RECRUITING | Multi-Omic Assessment of Squamous Cell Cancers Receiving Systemic Therapy |
| NCT06910137 | Not specified | AVAILABLE | An Early Access Program Guideline to Provide Access to Retifanlimab (INCMGA00012) Together With Carboplatin and Paclitaxel for Squamous Carcinoma of the Anal Canal (SCAC) |
| NCT07455942 | Not specified | NOT_YET_RECRUITING | Towards an Understanding of Barriers and Delays in the Diagnosis of Anal Cancer |
| NCT05201105 | Not specified | COMPLETED | Tumor Recurrence After Abdominal-perineal Amputation in Squamous Cell Carcinoma of the Anus |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| RETIFANLIMAB | 4 | 2 |
| CARBOPLATIN | 4 | 1 |
| FLUDEOXYGLUCOSE F 18 | 4 | 1 |
Related Atlas pages
- Drugs: Retifanlimab, Carboplatin, FLUDEOXYGLUCOSE F 18