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ORPHA:213630

Primitive neuroectodermal tumor of the corpus uteri

low confidenceDisorder

Also known as: Malignant peripheral neuroectodermal tumor of the corpus uteri · Peripheral neuroectodermal cancer of the corpus uteri

Publications

0

Trials

0

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

—

Readiness

0/6

Stages with a signal

Clinical definition (Orphanet)

Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

body of uterus primitive neuroectodermal tumor · body of uterus primitive neuroectodermal tumour · malignant peripheral neuroectodermal tumor of the corpus uteri · malignant peripheral neuroectodermal tumour of the corpus uteri · peripheral neuroectodermal cancer of the corpus uteri · primitive neuroectodermal tumor of body of uterus · primitive neuroectodermal tumour of body of uterus

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.”

0/6 stages with a signal

Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteratureNot checked

    Query returned nothing — not evidence of absence 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 trialNot checked

    Broken query — trial zero not trusted

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

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

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

0

We found no papers under this exact name — work may still exist under another label.

0 in the last 10 years · low confidence

Phrase hits: 0 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

0

Distinct author names in 0 sampled papers.

Who's working on it?

No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.

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). 94 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 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence

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.

94 interventional trials matched primitive neuroectodermal tumor, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: primitive neuroectodermal tumor

94

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

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

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 Primitive neuroectodermal tumor of the corpus uteri — 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.

"Primitive neuroectodermal tumor of the corpus uteri" OR "Primitive neuroectodermal tumor of corpus uteri" OR "Malignant peripheral neuroectodermal tumor of the corpus uteri" OR "Malignant peripheral neuroectodermal tumor of corpus uteri" OR "Peripheral neuroectodermal cancer of the corpus uteri" OR "Peripheral neuroectodermal cancer of corpus uteri" OR "body of uterus primitive neuroectodermal tumor" OR "body of the uterus primitive neuroectodermal tumor" OR "body of uterus primitive neuroectodermal tumour" OR "body of the uterus primitive neuroectodermal tumour" OR "malignant peripheral neuroectodermal tumour of the corpus uteri" OR "malignant peripheral neuroectodermal tumour of corpus uteri" OR "primitive neuroectodermal tumor of body of uterus" OR "primitive neuroectodermal tumor of the body of the uterus" OR "primitive neuroectodermal tumour of body of uterus" OR "primitive neuroectodermal tumour of the body of the uterus"

Run this search on Europe PMC

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

"Primitive neuroectodermal tumor of the corpus uteri" OR "Primitive neuroectodermal tumor of corpus uteri" OR "Malignant peripheral neuroectodermal tumor of the corpus uteri" OR "Malignant peripheral neuroectodermal tumor of corpus uteri" OR "Peripheral neuroectodermal cancer of the corpus uteri" OR "Peripheral neuroectodermal cancer of corpus uteri" OR "body of uterus primitive neuroectodermal tumor" OR "body of the uterus primitive neuroectodermal tumor" OR "body of uterus primitive neuroectodermal tumour" OR "body of the uterus primitive neuroectodermal tumour" OR "malignant peripheral neuroectodermal tumour of the corpus uteri" OR "malignant peripheral neuroectodermal tumour of corpus uteri" OR "primitive neuroectodermal tumor of body of uterus" OR "primitive neuroectodermal tumor of the body of the uterus" OR "primitive neuroectodermal tumour of body of uterus" OR "primitive neuroectodermal tumour of the body of the uterus" OR "corpus uteri neoplasm"

Recall-expansion terms: corpus uteri neoplasm

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

Parent-category trials query:

"primitive neuroectodermal tumor"

Query health: broken — strategies attempted: phrase, recall-expansion; with hits: none

Parent literature probe: primitive neuroectodermal tumor (MONDO:0005462) — 5795 hits

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
  • Zero publications but parent term primitive neuroectodermal tumor has 5795 — literature likely indexed under a broader name

Ingested 2026-07-27T09:35:46.000Z · excluded from neglect metrics