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ORPHA:168999

Malignant melanoma of the mucosa

high confidenceDisorder

Publications

88

52.4th percentile

Trials

0

Interventional, condition-specific

Researchers

489

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.

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 (3)

melanoma (disease) of mucosa · mucosa melanoma · mucosa melanoma (disease)

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    88 matched papers (47 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 2890 for broader category melanoma

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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

88

88 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

88 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

47 in the last 10 years · high confidence · 52.4th percentile (publications denominator)

Phrase hits: 88 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

489

Distinct author names in 88 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wang Y3 papers · 2024

    Center Laboratory, Peking University Hospital of Stomatology, Haidian, Beijing 100081, P.R. China.

    Papers in Europe PMC
  2. 02
    Li J2 papers · 2024

    1 Peking University Cancer Hospital & Institute, Beijing 100142, China ; 2 People's Liberation Army (PLA) 81 Hospital, Nanjing 210002, China ; 3 Peking University International Hospital, Beijing 100089, China ; 4 Sun Yat-sen University Cancer Center, Guangzhou 510060, China ; 5 Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing 100730, China ; 6 PLA General Hospital (304 Hospital), Beijing 100048, China ; 7 Zhejiang Provincial Tumor Hospital, Hangzhou 310022, China ; 8 First Affiliated Hospital of Anhui Medical University, Hefei 230022, China ; 9 Cancer Institute & Hospital, China Academy of Medical Sciences, Beijing 100021, China ; 10 Southwest Hospital & Third Military Medical University Affiliated First Hospital, Chongqing 400038, China ; 11 First Affiliated Hospital of Dalian Medical University, Dalian 116011, China ; 12 Sichuan Provincial People's Hospital, Chengdu 610072, China ; 13 Xi'an Jiao Tong University Affiliated First Hospital, Xi'an 710061, China ; 14 Beijing Jishuitan Hospital & Fourth Clinical College of Peking University, Beijing 100035, China ; 15 Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou 310016, China ; 16 Nineth People's Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China ; 17 Tianjin Medical University Affiliated Tumor Hospital, Tianjin 300321, China ; 18 Jiangsu Provincial People's Hospital & First affiliated hospital of Nanjing Medical University, Nanjing 210036, China ; 19 Yunnan Provincial Tumor Hospital, Nanjing 210029, China ; 20 First Affiliated Hospital of Suzhou University, Suzhou 215006, China ; 21 General Hospital of Jinan Military Command, Jinan 250031, China ; 22 Jilin University First Hospital, Changchun 130021, China ; 23 Southern Hospital, Southern Medical University, Guangzhou 510515, China ; 24 Fudan University Affiliated Tumor Hospital, Shanghai 200032, China.

    Papers in Europe PMC
  3. 03
    Lourenço SV2 papers · 2017

    Department of General Pathology, Dental School, University of São Paulo, São Paulo, Brazil. silvialourenco@usp.br

    Papers in Europe PMC
  4. 04
    Matsuda T2 papers · 2025

    Division of International Health Policy Research, Institution for Cancer Control, National Cancer Center, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Pan H2 papers · 2024

    1 Peking University Cancer Hospital & Institute, Beijing 100142, China ; 2 People's Liberation Army (PLA) 81 Hospital, Nanjing 210002, China ; 3 Peking University International Hospital, Beijing 100089, China ; 4 Sun Yat-sen University Cancer Center, Guangzhou 510060, China ; 5 Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing 100730, China ; 6 PLA General Hospital (304 Hospital), Beijing 100048, China ; 7 Zhejiang Provincial Tumor Hospital, Hangzhou 310022, China ; 8 First Affiliated Hospital of Anhui Medical University, Hefei 230022, China ; 9 Cancer Institute & Hospital, China Academy of Medical Sciences, Beijing 100021, China ; 10 Southwest Hospital & Third Military Medical University Affiliated First Hospital, Chongqing 400038, China ; 11 First Affiliated Hospital of Dalian Medical University, Dalian 116011, China ; 12 Sichuan Provincial People's Hospital, Chengdu 610072, China ; 13 Xi'an Jiao Tong University Affiliated First Hospital, Xi'an 710061, China ; 14 Beijing Jishuitan Hospital & Fourth Clinical College of Peking University, Beijing 100035, China ; 15 Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou 310016, China ; 16 Nineth People's Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China ; 17 Tianjin Medical University Affiliated Tumor Hospital, Tianjin 300321, China ; 18 Jiangsu Provincial People's Hospital & First affiliated hospital of Nanjing Medical University, Nanjing 210036, China ; 19 Yunnan Provincial Tumor Hospital, Nanjing 210029, China ; 20 First Affiliated Hospital of Suzhou University, Suzhou 215006, China ; 21 General Hospital of Jinan Military Command, Jinan 250031, China ; 22 Jilin University First Hospital, Changchun 130021, China ; 23 Southern Hospital, Southern Medical University, Guangzhou 510515, China ; 24 Fudan University Affiliated Tumor Hospital, Shanghai 200032, China.

    Papers in Europe PMC
  6. 06
    Soares FA2 papers · 2009
    Papers in Europe PMC
  7. 07
    Sunami K2 papers · 2024

    Department of Laboratory Medicine, National Cancer Center Hospital, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Wang B2 papers · 2015

    1 Peking University Cancer Hospital & Institute, Beijing 100142, China ; 2 People's Liberation Army (PLA) 81 Hospital, Nanjing 210002, China ; 3 Peking University International Hospital, Beijing 100089, China ; 4 Sun Yat-sen University Cancer Center, Guangzhou 510060, China ; 5 Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing 100730, China ; 6 PLA General Hospital (304 Hospital), Beijing 100048, China ; 7 Zhejiang Provincial Tumor Hospital, Hangzhou 310022, China ; 8 First Affiliated Hospital of Anhui Medical University, Hefei 230022, China ; 9 Cancer Institute & Hospital, China Academy of Medical Sciences, Beijing 100021, China ; 10 Southwest Hospital & Third Military Medical University Affiliated First Hospital, Chongqing 400038, China ; 11 First Affiliated Hospital of Dalian Medical University, Dalian 116011, China ; 12 Sichuan Provincial People's Hospital, Chengdu 610072, China ; 13 Xi'an Jiao Tong University Affiliated First Hospital, Xi'an 710061, China ; 14 Beijing Jishuitan Hospital & Fourth Clinical College of Peking University, Beijing 100035, China ; 15 Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou 310016, China ; 16 Nineth People's Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China ; 17 Tianjin Medical University Affiliated Tumor Hospital, Tianjin 300321, China ; 18 Jiangsu Provincial People's Hospital & First affiliated hospital of Nanjing Medical University, Nanjing 210036, China ; 19 Yunnan Provincial Tumor Hospital, Nanjing 210029, China ; 20 First Affiliated Hospital of Suzhou University, Suzhou 215006, China ; 21 General Hospital of Jinan Military Command, Jinan 250031, China ; 22 Jilin University First Hospital, Changchun 130021, China ; 23 Southern Hospital, Southern Medical University, Guangzhou 510515, China ; 24 Fudan University Affiliated Tumor Hospital, Shanghai 200032, China.

    Papers in Europe PMC
  9. 09
    Wang S2 papers · 2024

    Center Laboratory, Peking University Hospital of Stomatology, Haidian, Beijing 100081, P.R. China.

    Papers in Europe PMC
  10. 10
    Yamamoto N2 papers · 2024

    Department of Experimental Therapeutics, National Cancer Center Hospital, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2,890 trials are registered for melanoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2,890 interventional trials matched melanoma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: melanoma

2,890

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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Malignant melanoma of the mucosa" OR "Malignant melanoma of mucosa" OR "melanoma (disease) of mucosa" OR "melanoma (disease) of the mucosa" OR "mucosa melanoma" OR "mucosa melanoma (disease)"

Run this search on Europe PMC

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

"Malignant melanoma of the mucosa" OR "Malignant melanoma of mucosa" OR "melanoma (disease) of mucosa" OR "melanoma (disease) of the mucosa" OR "mucosa melanoma" OR "mucosa melanoma (disease)"

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

Parent-category trials query:

"melanoma"

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

Ingested 2026-07-27T08:33:53.133Z