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ORPHA:494448

Vulvar squamous cell carcinoma

low confidenceSubtype of disorder

Also known as: Squamous cell carcinoma of the vulva

Publications

2,625

Trials

25

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare vulvar carcinoma characterized by an ulcer, nodule, macule, or pedunculated mass which is histologically composed of infiltrating islands of malignant squamous cells. Histological subtypes include keratinizing, non-keratinizing, basaloid, warty, and verrucous carcinomas. Some tumors are associated with human papilloma virus, smoking, high grade squamous intraepithelial lesion, chronic vulvar inflammatory disorders, or differentiated vulvar intraepithelial neoplasia. Patients may present with discharge, bleeding, or pain. Most important prognostic features are tumor depth and lymph node status.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (14)

epidermoid carcinoma of the vulva · epidermoid carcinoma of vulva · epidermoid cell carcinoma of the vulva · epidermoid cell carcinoma of vulva · mammalian vulva squamous cell carcinoma · squamous cell carcinoma of the vulva · squamous cell carcinoma of vulva · vulva epidermoid carcinoma · vulva epidermoid cell carcinoma · vulva squamous cell carcinoma · vulvar epidermoid carcinoma · vulvar epidermoid cell carcinoma · vulvar squamous cell cancer · vulvar squamous cell carcinoma

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,625 matched papers (1,414 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    25 matched on ClinicalTrials.gov (12 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

11

Drugs / clinical candidates · MONDO_0024609

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,625

2,625 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,625 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,414 in the last 10 years · low confidence

Phrase hits: 2,625 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,122

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Nigdelis MP8 papers · 2026

    Department of Gynecology, Obstetrics and Reproductive Medicine, Saarland University Medical Center (UKS), 66424 Homburg, Germany.

    Papers in Europe PMC
  2. 02
    Wagner M8 papers · 2026

    Department of General and Special Pathology, Saarland University (USAAR) and Saarland University Medical Center (UKS), 66424 Homburg, Germany.

    Papers in Europe PMC
  3. 03
    Hasenburg A7 papers · 2026

    Department of Obstetrics and Gynecology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.

    Papers in Europe PMC
  4. 04
    Hoang L7 papers · 2026

    Vancouver General Hospital, University of British Columbia, Vancouver, Canada.

    Papers in Europe PMC
  5. 05
    Klamminger GG7 papers · 2026

    Department of General and Special Pathology, Saarland University (USAAR) and Saarland University Medical Center (UKS), 66424 Homburg, Germany.

    Papers in Europe PMC
  6. 06
    Bitterlich A6 papers · 2025

    Department of General and Special Pathology, Saarland University (USAAR) and Saarland University Medical Center (UKS), 66424 Homburg, Germany.

    Papers in Europe PMC
  7. 07
    Solomayer EF6 papers · 2025

    Department of Gynecology, Obstetrics and Reproductive Medicine, Saarland University Medical Center (UKS), 66424 Homburg, Germany.

    Papers in Europe PMC
  8. 08
    Bleeker MCG5 papers · 2026

    Amsterdam UMC location Vrije Universiteit Amsterdam, Pathology, Amsterdam, The Netherlands; Cancer Center Amsterdam, Imaging and Biomarkers, Amsterdam, The Netherlands. Electronic address: mcg.bleeker@amsterdamumc.nl.

    Papers in Europe PMC
  9. 09
    Carreras-Dieguez N5 papers · 2025

    Department of Obstetrics and Gynecology, Hospital Clínic - University of Barcelona, Barcelona, Spain

    Papers in Europe PMC
  10. 10
    Marimon L5 papers · 2025

    Barcelona Institute of Global Health (ISGlobal)

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

25

interventional trials for this specific condition

25 interventional trials matched this specific condition name; 12 currently recruiting in our sample. 2,532 trials are registered for squamous cell carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

25 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.5th percentile).

low confidence · 95.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

25 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: squamous cell carcinoma

2,532

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (9)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Vulvar squamous cell carcinoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Vulvar squamous cell carcinoma" OR "Squamous cell carcinoma of the vulva" OR "Squamous cell carcinoma of vulva" OR "epidermoid carcinoma of the vulva" OR "epidermoid carcinoma of vulva" OR "epidermoid cell carcinoma of the vulva" OR "epidermoid cell carcinoma of vulva" OR "mammalian vulva squamous cell carcinoma" OR "vulva epidermoid carcinoma" OR "vulva epidermoid cell carcinoma" OR "vulva squamous cell carcinoma" OR "vulvar epidermoid carcinoma" OR "vulvar epidermoid cell carcinoma" OR "vulvar squamous cell cancer"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Vulvar squamous cell carcinoma" OR "Squamous cell carcinoma of the vulva" OR "Squamous cell carcinoma of vulva" OR "epidermoid carcinoma of the vulva" OR "epidermoid carcinoma of vulva" OR "epidermoid cell carcinoma of the vulva" OR "epidermoid cell carcinoma of vulva" OR "mammalian vulva squamous cell carcinoma" OR "vulva epidermoid carcinoma" OR "vulva epidermoid cell carcinoma" OR "vulva squamous cell carcinoma" OR "vulvar epidermoid carcinoma" OR "vulvar epidermoid cell carcinoma" OR "vulvar squamous cell cancer"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 25 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"squamous cell carcinoma"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2625) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T17:31:52.015Z