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ORPHA:64742

Pleuropulmonary blastoma

low confidenceDisorder

Publications

9,905

Trials

3

Interventional, condition-specific

Researchers

1,220

Distinct authors in sample

Gene link

DICER1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax.

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 (6)

childhood pulmonary blastoma · paediatric pulmonary blastoma · pediatric pulmonary blastoma · pleuropulmonary blastoma · pleuropulmonary blastoma (morphologic abnormality) · pulmonary blastoma of childhood

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — DICER1

  2. LiteraturePresent

    9,905 matched papers (6,656 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Medulloblastoma; Pleuropulmonary blastoma; Rhabdomyosarcoma) Source

  4. Animal modelPresent

    2 genotype models (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

    3 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (DICER1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

3

Associated phenotypes · MONDO:0011014

  • Medulloblastoma
  • Pleuropulmonary blastoma
  • Rhabdomyosarcoma

Animal models (Monarch / Alliance)

2

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

8

Drugs / clinical candidates · MONDO_0011014

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,905

9,905 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.

9,905 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).

6,656 in the last 10 years · low confidence

Phrase hits: 2,207 · MeSH hits: 42

Open Europe PMC search

Who's working on it?

1,220

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
    Schultz KAP18 papers · 2026

    International Pleuropulmonary Blastoma/DICER1Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  2. 02
    Nelson AT12 papers · 2026

    International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA.

    Papers in Europe PMC
  3. 03
    Dehner LP11 papers · 2026

    Lauren V. Ackerman Laboratory of Surgical Pathology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, MO, USA.

    Papers in Europe PMC
  4. 04
    Harris AK9 papers · 2026

    International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, MN, USA; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, MN, USA; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  5. 05
    Hill DA9 papers · 2026

    Lauren V. Ackerman Laboratory of Surgical Pathology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, MO, USA.

    Papers in Europe PMC
  6. 06
    Messinger YH9 papers · 2026

    International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA.

    Papers in Europe PMC
  7. 07
    Chen KS8 papers · 2026

    Department of Pediatrics, Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.

    Papers in Europe PMC
  8. 08
    Kamihara J7 papers · 2025

    Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  9. 09
    Stewart DR7 papers · 2026

    Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.

    Papers in Europe PMC
  10. 10
    Mallinger PHR6 papers · 2025

    International Pleuropulmonary Blastoma/DICER1 Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: blastoma

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

7 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 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 Pleuropulmonary blastoma — 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.

("Pleuropulmonary blastoma" OR "childhood pulmonary blastoma" OR "paediatric pulmonary blastoma" OR "pediatric pulmonary blastoma" OR "pleuropulmonary blastoma (morphologic abnormality)" OR "pulmonary blastoma of childhood" OR "pulmonary blastoma of the childhood") OR (MESH:"Pleuropulmonary blastoma") OR ("DICER1" OR "DICER1 syndrome" OR "DICER1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pleuropulmonary blastoma

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

"Pleuropulmonary blastoma" OR "childhood pulmonary blastoma" OR "paediatric pulmonary blastoma" OR "pediatric pulmonary blastoma" OR "pleuropulmonary blastoma (morphologic abnormality)" OR "pulmonary blastoma of childhood" OR "pulmonary blastoma of the childhood"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"blastoma"

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

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 (9905) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:11:24.292Z