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ORPHA:3148

Malignant peripheral nerve sheath tumor

low confidenceDisorder

Also known as: MPNST · Malignant neurilemmoma · Malignant neurofibroma · Malignant schwannoma · Neurofibrosarcoma · Neurogenic sarcoma

Publications

15,603

Trials

41

Interventional, condition-specific

Researchers

1,217

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (19)

Malig. periph. nerve sheath tum. · malignant neoplasm of peripheral nerve sheath · malignant neurilemmoma · malignant neurilemoma · malignant neurofibroma · malignant peripheral nerve sheath neoplasm · malignant peripheral nerve sheath tumor · malignant peripheral nerve sheath tumor (morphologic abnormality) · malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) · malignant peripheral nerve sheath tumour (morphologic abnormality) · malignant peripheral nerve sheath tumour [dup] (morphologic abnormality) · malignant schwannoma · malignant tumor of peripheral nerve sheath · malignant tumor of the peripheral nerve sheath · malignant tumour of peripheral nerve sheath · malignant tumour of the peripheral nerve sheath · neurofibrosarcoma, malignant · neurogenic sarcoma · schwannoma, malignant

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

    15,603 matched papers (8,544 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Adult onset) Source

  4. Animal modelPresent

    7 genotype models (Danio rerio, Rattus norvegicus, Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    41 matched on ClinicalTrials.gov (11 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)

1

Associated phenotypes · MONDO:0017827

  • Adult onset

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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

39

Drugs / clinical candidates · MONDO_0017827

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

15,603

15,603 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.

15,603 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).

8,544 in the last 10 years · low confidence

Phrase hits: 15,603 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,217

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
    Spinner RJ6 papers · 2026

    Department of Neurologic Surgery, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  2. 02
    Wang H6 papers · 2026

    Department of Neurologic Surgery, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  3. 03
    Gel B4 papers · 2026

    Hereditary Cancer Group, CARE Translational Program, Germans Trias i Pujol Research Institute (IGTP), Badalona, Barcelona, Spain.

    Papers in Europe PMC
  4. 04
    Hirbe AC4 papers · 2026

    Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA. hirbea@wustl.edu.

    Papers in Europe PMC
  5. 05
    Serra E4 papers · 2026

    Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.

    Papers in Europe PMC
  6. 06
    Zhang Y4 papers · 2026

    Department of Oncology, The First Affiliated Hospital of Xinxiang Medical University, Henan, China.

    Papers in Europe PMC
  7. 07
    Antonescu CR3 papers · 2026

    Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

    Papers in Europe PMC
  8. 08
    Carrió M3 papers · 2026

    Hereditary Cancer Group, CARE Translational Program, Germans Trias i Pujol Research Institute (IGTP), Badalona, Barcelona, Spain.

    Papers in Europe PMC
  9. 09
    Chen L3 papers · 2026

    Department of Sports Medicine, Rizhao People's Hospital, Rizhao, Shandong, China.

    Papers in Europe PMC
  10. 10
    Chrabąszcz K3 papers · 2026

    Institute of Nuclear Physics Polish Academy of Sciences, PL-31342 Krakow, Poland. karolina.chrabaszcz@ifj.edu.pl.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

41

interventional trials for this specific condition

41 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 11 September 2026

41 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.8th percentile).

low confidence · 96.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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 5 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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 (4)

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 Malignant peripheral nerve sheath tumor — 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.

"Malignant peripheral nerve sheath tumor" OR "MPNST" OR "Malignant neurilemmoma" OR "Malignant neurofibroma" OR "Malignant schwannoma" OR "Neurofibrosarcoma" OR "Neurogenic sarcoma" OR "Malig. periph. nerve sheath tum." OR "malignant neoplasm of peripheral nerve sheath" OR "malignant neoplasm of the peripheral nerve sheath" OR "malignant neurilemoma" OR "malignant peripheral nerve sheath neoplasm" OR "malignant peripheral nerve sheath tumor (morphologic abnormality)" OR "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" OR "malignant peripheral nerve sheath tumour (morphologic abnormality)" OR "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)" OR "malignant tumor of peripheral nerve sheath" OR "malignant tumor of the peripheral nerve sheath" OR "malignant tumour of peripheral nerve sheath" OR "malignant tumour of the peripheral nerve sheath" OR "neurofibrosarcoma, malignant" OR "schwannoma, malignant"

Run this search on Europe PMC

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

"Malignant peripheral nerve sheath tumor" OR "MPNST" OR "Malignant neurilemmoma" OR "Malignant neurofibroma" OR "Malignant schwannoma" OR "Neurofibrosarcoma" OR "Neurogenic sarcoma" OR "Malig. periph. nerve sheath tum." OR "malignant neoplasm of peripheral nerve sheath" OR "malignant neoplasm of the peripheral nerve sheath" OR "malignant neurilemoma" OR "malignant peripheral nerve sheath neoplasm" OR "malignant peripheral nerve sheath tumor (morphologic abnormality)" OR "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" OR "malignant peripheral nerve sheath tumour (morphologic abnormality)" OR "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)" OR "malignant tumor of peripheral nerve sheath" OR "malignant tumor of the peripheral nerve sheath" OR "malignant tumour of peripheral nerve sheath" OR "malignant tumour of the peripheral nerve sheath" OR "neurofibrosarcoma, malignant" OR "schwannoma, malignant"

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: 41 interventional · 6 observational · 2 expanded access. Only interventional studies enter the trial headline.

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 (15603) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:19:28.022Z