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ORPHA:79140

Cutaneous neuroendocrine carcinoma

medium confidenceDisorder

Also known as: MCC · Merkel cell carcinoma

Publications

12,196

96.5th percentile

Trials

128

Interventional, condition-specific

Researchers

1,216

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare aggressive skin cancer characterized by a rapidly growing nodule with both epithelial and neuroendocrine features, driven in 80% of cases by the oncogenic Merkel cell polyomavirus (MCPyV).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (12)

Merkel Cell Carcinoma · Merkel cell cancer · Merkel cell tumor · Merkel cell tumour · carcinoma of Merkel cell · cutaneous APUDoma · cutaneous neuroendocrine carcinoma · neuroendocrine carcinoma of skin · neuroendocrine carcinoma of the skin · neuroendocrine skin carcinoma · trabecular cancer · trabecular skin 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.”

4/6 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

    12,196 matched papers (8,306 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Merkel cell skin cancer; Cutaneous photosensitivity; Chronic noninfectious lymphadenopathy) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    3 FDA · 5 EMA designations (2 FDA orphan-indication approvals) — e.g. cavrotolimod Source

  6. Interventional trialPresent

    128 matched on ClinicalTrials.gov (30 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)

17

Associated phenotypes · MONDO:0019210

  • Merkel cell skin cancer
  • Cutaneous photosensitivity
  • Chronic noninfectious lymphadenopathy
  • Erythematous plaque
  • Lymphoid leukemia

Showing 5 of 17 — open Monarch for the full list.

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)

8

Designations · 2 with FDA orphan-indication approval

  • FDA cavrotolimodMerkel cell carcinoma · 2021-03-02 · Not FDA Approved for Orphan Indication
  • FDA RetifanlimabMerkel cell carcinoma · 2020-10-26 · Not FDA Approved for Orphan Indication
  • EMA live-attenuated non-replicative Pseudomonas aeruginosa strain expressing large T antigen of Merkel cell polyomavirusTreatment of Merkel cell carcinoma · 18/11/2016 · PositiveEMA designation
  • EMA navtemadlinTreatment of Merkel cell carcinoma · 14/01/2022 · PositiveEMA designation
  • EMA retifanlimab (Zynyz)Treatment of Merkel cell carcinoma · 13/01/2023 · PositiveEMA designation
  • FDA pembrolizumab (Keytruda)Merkel cell carcinoma · 2016-12-28
  • EMA recombinant human monoclonal IgG1 antibody against programmed death ligand-1 (avelumab)Treatment of Merkel cell carcinoma · 14/12/2015 · WithdrawnEMA designation
  • EMA Maytansinoid-conjugated humanised monoclonal antibody against CD56Treatment of Merkel cell carcinoma · 09/06/2010 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

4 associated chemicals · 64 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Carboplatin · therapeutic
  • Cisplatin · therapeutic
  • Etoposide · therapeutic
  • Resveratrol · therapeutic

Pathways: MAPK signaling pathway; ErbB signaling pathway; Cell cycle; PI3K-Akt signaling pathway; Wnt signaling pathway; TGF-beta signaling pathway; Hippo signaling pathway; Signaling pathways regulating pluripotency of stem cells

MyDisease.info · MONDO:0019210

Literature

Is anyone studying this?

12,196

12,196 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,196 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).

8,306 in the last 10 years · medium confidence · 96.5th percentile (publications denominator)

Phrase hits: 12,196 · MeSH hits: 33

Open Europe PMC search

Who's working on it?

1,216

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
    Akaike T9 papers · 2026

    University of Washington, Seattle, Washington; Fred Hutchinson Cancer Center, Seattle, Washington.

    Papers in Europe PMC
  2. 02
    Bhatia S8 papers · 2026

    Division of Medical Oncology, Department of Medicine, University of Washington and Fred Hutchinson Cancer Center, Seattle, Washington, USA.

    Papers in Europe PMC
  3. 03
    Hippe DS8 papers · 2026

    Fred Hutchinson Cancer Center, Seattle, Washington.

    Papers in Europe PMC
  4. 04
    Ch'en PY7 papers · 2026

    University of Washington, Seattle, Washington; Albert Einstein College of Medicine, Bronx, New York.

    Papers in Europe PMC
  5. 05
    Nghiem P7 papers · 2026

    Department of Medicine, Division of Dermatology, University of Washington, 850 Republican Street, Box 358050, Seattle, WA, USA. pnghiem@uw.edu.

    Papers in Europe PMC
  6. 06
    Berezhnov I6 papers · 2026

    Oncology Institute, Edith Wolfson Medical Center, Holon 58220, Israel.

    Papers in Europe PMC
  7. 07
    Brenner R6 papers · 2026

    Oncology Institute, Edith Wolfson Medical Center, Holon 58220, Israel.

    Papers in Europe PMC
  8. 08
    Fenig E6 papers · 2026

    Institute of Oncology, Davidoff Center, Rabin Medical Center, Beilinson Hospital, Petah Tikva 4941492, Israel.

    Papers in Europe PMC
  9. 09
    Fenig S6 papers · 2026

    Institute of Oncology, Kaplan Medical Center, Faculty of Medicine, Hebrew University, Jerusalem 9190500, Israel.

    Papers in Europe PMC
  10. 10
    Ievko A6 papers · 2026

    Oncology Institute, Edith Wolfson Medical Center, Holon 58220, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

128

interventional trials for this specific condition

128 interventional trials matched this specific condition name; 30 currently recruiting in our sample. 154 trials are registered for neuroendocrine carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

128 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.8th percentile).

medium confidence · 98.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: neuroendocrine carcinoma

154

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

13 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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)

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 Cutaneous neuroendocrine 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.

"Cutaneous neuroendocrine carcinoma" OR "Merkel cell carcinoma" OR "Merkel cell cancer" OR "Merkel cell tumor" OR "Merkel cell tumour" OR "carcinoma of Merkel cell" OR "carcinoma of the Merkel cell" OR "cutaneous APUDoma" OR "neuroendocrine carcinoma of skin" OR "neuroendocrine carcinoma of the skin" OR "neuroendocrine skin carcinoma" OR "trabecular cancer" OR "trabecular skin carcinoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Carcinoma, Merkel Cell

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

"Cutaneous neuroendocrine carcinoma" OR "Merkel cell carcinoma" OR "Merkel cell cancer" OR "Merkel cell tumor" OR "Merkel cell tumour" OR "carcinoma of Merkel cell" OR "carcinoma of the Merkel cell" OR "cutaneous APUDoma" OR "neuroendocrine carcinoma of skin" OR "neuroendocrine carcinoma of the skin" OR "neuroendocrine skin carcinoma" OR "trabecular cancer" OR "trabecular skin carcinoma" OR "Carcinoma, Merkel Cell"

Interventional trials matched via: both, 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: 128 interventional · 13 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neuroendocrine carcinoma"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MCC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:02:47.686Z