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ORPHA:370348

Peripheral primitive neuroectodermal tumor

low confidenceDisorder

Also known as: PPNET · Peripheral PNET · Peripheral neuroepithelioma

Publications

1,696

Trials

49

Interventional, condition-specific

Researchers

1,039

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.

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 (8)

pPNET · peripheral PNET · peripheral neuroectodermal neoplasm · peripheral neuroectodermal tumor · peripheral neuroectodermal tumour · peripheral neuroepithelioma · peripheral primitive neuroectodermal neoplasm · peripheral primitive neuroectodermal tumor

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

    1,696 matched papers (607 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 trialPresent

    49 matched on ClinicalTrials.gov (2 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)

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?

1,696

1,696 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=5449) is 41.

1,696 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).

607 in the last 10 years · low confidence

Phrase hits: 1,696 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,039

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
    Li Y6 papers · 2023

    Department of Pediatric Surgery, Hunan Children's Hospital.

    Papers in Europe PMC
  2. 02
    Li Z5 papers · 2025

    Department of Biostatistics, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  3. 03
    Liu Y5 papers · 2020

    Department of Pathology, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin 300100, P.R. China.

    Papers in Europe PMC
  4. 04
    Liu X4 papers · 2025

    Department of Medical imaging, The Second Hospital of Hebei Medical University, Shijiazhuang, China.

    Papers in Europe PMC
  5. 05
    Mehrotra A4 papers · 2018

    Department of Neurosurgery, SGPGIMS, Lucknow, Uttar Pradesh, India.

    Papers in Europe PMC
  6. 06
    Sahu RN4 papers · 2019

    Department of Neurosurgery, SGPGIMS, Lucknow, Uttar Pradesh, India.

    Papers in Europe PMC
  7. 07
    Wang Y4 papers · 2023

    Department of Neurosurgery, Tongji Medical School, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  8. 08
    Allali N3 papers · 2026

    Pediatric and Gynecology Radiology Department, Children's Hospital, University Mohammed V, Rabat, Morroco.

    Papers in Europe PMC
  9. 09
    Behari S3 papers · 2018

    Department of Neurosurgery, SGPGIMS, Lucknow, Uttar Pradesh, India.

    Papers in Europe PMC
  10. 10
    Bhaisora KS3 papers · 2018

    Department of Neurosurgery, SGPGIMS, Lucknow, Uttar Pradesh, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

49

interventional trials for this specific condition

49 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 47 trials are registered for primitive neuroectodermal tumor, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

49 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97th percentile).

low confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: primitive neuroectodermal tumor

47

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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.

"Peripheral primitive neuroectodermal tumor" OR "PPNET" OR "Peripheral PNET" OR "Peripheral neuroepithelioma" OR "peripheral neuroectodermal neoplasm" OR "peripheral neuroectodermal tumor" OR "peripheral neuroectodermal tumour" OR "peripheral primitive neuroectodermal neoplasm"

Run this search on Europe PMC

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

"Peripheral primitive neuroectodermal tumor" OR "PPNET" OR "Peripheral PNET" OR "Peripheral neuroepithelioma" OR "peripheral neuroectodermal neoplasm" OR "peripheral neuroectodermal tumor" OR "peripheral neuroectodermal tumour" OR "peripheral primitive neuroectodermal neoplasm"

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: 49 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"primitive neuroectodermal tumor"

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 (1696) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T14:56:44.289Z