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ORPHA:97289

Thymic neuroendocrine tumor

high confidenceDisorder

Publications

200

65.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,224

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

neuroendocrine neoplasm of thymus · thymus NET · thymus neuroendocrine neoplasm · thymus neuroendocrine tumor · thymus neuroendocrine tumor, well differentiated, low or intermediate grade · thymus neuroendocrine tumour

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.”

3/6 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

    200 matched papers (167 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Increased circulating ACTH level; Abnormal vena cava morphology; Hypercalcemia) Source

  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 trialPresent

    2 matched on ClinicalTrials.gov

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)

24

Associated phenotypes · MONDO:0019964

  • Increased circulating ACTH level
  • Abnormal vena cava morphology
  • Hypercalcemia
  • Pancreatic islet cell adenoma
  • Chronic noninfectious lymphadenopathy

Showing 5 of 24 — open Monarch for the full list.

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

7

Drugs / clinical candidates · MONDO_0019964

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

200

200 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=3967) is 59.

200 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).

167 in the last 10 years · high confidence · 65.2th percentile (publications denominator)

Phrase hits: 200 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,224

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
    Zhang J7 papers · 2026

    Department of Diagnostic Radiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

    Papers in Europe PMC
  2. 02
    Chen Y5 papers · 2023

    Thoracic and Gastrointestinal Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  3. 03
    Marom EM5 papers · 2023

    Department of Diagnostic Radiology, Chaim Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel.

    Papers in Europe PMC
  4. 04
    Agarwal SK4 papers · 2023

    Metabolic Diseases Branch, the National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  5. 05
    Ankersmit HJ4 papers · 2020

    Division of Thoracic Surgery, Department of Surgery, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  6. 06
    Janik S4 papers · 2020

    Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  7. 07
    Klepetko W4 papers · 2020

    Division of Thoracic Surgery, Department of Surgery, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  8. 08
    Marino M4 papers · 2023

    Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Moser B4 papers · 2020

    Division of Thoracic Surgery, Department of Surgery, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  10. 10
    Müllauer L4 papers · 2020

    Department of Anaesthesiology, General Intensive Care and Pain Medicine, Division of Cardiac Thoracic Vascular Anaesthesia and Intensive Care Medicine, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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 Thymic neuroendocrine 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.

"Thymic neuroendocrine tumor" OR "neuroendocrine neoplasm of thymus" OR "neuroendocrine neoplasm of the thymus" OR "thymus NET" OR "thymus neuroendocrine neoplasm" OR "thymus neuroendocrine tumor" OR "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" OR "thymus neuroendocrine tumour"

Run this search on Europe PMC

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

"Thymic neuroendocrine tumor" OR "neuroendocrine neoplasm of thymus" OR "neuroendocrine neoplasm of the thymus" OR "thymus NET" OR "thymus neuroendocrine neoplasm" OR "thymus neuroendocrine tumor" OR "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" OR "thymus neuroendocrine tumour"

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: 2 interventional · 0 observational · 0 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

Ingested 2026-07-27T05:09:04.267Z