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ORPHA:506136

Neuroendocrine neoplasm of esophagus

high confidenceDisorder

Also known as: Esophageal NEN · Esophageal neuroendocrine neoplasm · NEN of esophagus

Publications

446

74.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,335

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (19)

NEN of oesophagus · esophageal NEN · esophageal NET · esophageal neuroendocrine neoplasm · esophageal neuroendocrine tumor · esophageal well differentiated endocrine tumor · esophageal well differentiated endocrine tumor/carcinoma · esophageal well differentiated endocrine tumour · esophagus NET · esophagus neuroendocrine neoplasm · esophagus neuroendocrine tumor · esophagus neuroendocrine tumor, well differentiated, low or intermediate grade · neuroendocrine neoplasm of esophagus · neuroendocrine neoplasm of oesophagus · neuroendocrine tumour of oesophagus · oesophagus NET · oesophagus neuroendocrine neoplasm · oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade · oesophagus 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.”

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

    446 matched papers (285 in last 10 years) 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 trialPresent

    1 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)

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?

446

446 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.

446 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).

285 in the last 10 years · high confidence · 74.5th percentile (publications denominator)

Phrase hits: 446 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,335

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
    Grillo F3 papers · 2026

    Anatomic Pathology, Ospedale Policlinico San Martino IRCCS, Genova, Italy.

    Papers in Europe PMC
  2. 02
    Liu J3 papers · 2025

    Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University Shanghai, China.

    Papers in Europe PMC
  3. 03
    Zhang L3 papers · 2026

    Department of Thoracic Surgery, Section of Esophageal Surgery, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.

    Papers in Europe PMC
  4. 04
    Akiyoshi T2 papers · 2026

    Department of Colorectal Surgery Cancer Institute Hospital, Japanese Foundation for Cancer Research Tokyo Japan.

    Papers in Europe PMC
  5. 05
    Badolato R2 papers · 2022
    Papers in Europe PMC
  6. 06
    Baselli LA2 papers · 2022
    Papers in Europe PMC
  7. 07
    Cancrini C2 papers · 2022
    Papers in Europe PMC
  8. 08
    Carrabba M2 papers · 2022
    Papers in Europe PMC
  9. 09
    Chang DK2 papers · 2025

    Department of Medicine, Samsung Medical Center, Seoul 06351, South Korea.

    Papers in Europe PMC
  10. 10
    Chen C2 papers · 2024

    Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 2 trials are registered for neoplasm of esophagus, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Broader category: neoplasm of esophagus

2

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 Neuroendocrine neoplasm of esophagus — 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.

"Neuroendocrine neoplasm of esophagus" OR "Neuroendocrine neoplasm of the esophagus" OR "Esophageal NEN" OR "Esophageal neuroendocrine neoplasm" OR "NEN of esophagus" OR "NEN of the esophagus" OR "NEN of oesophagus" OR "NEN of the oesophagus" OR "esophageal NET" OR "esophageal neuroendocrine tumor" OR "esophageal well differentiated endocrine tumor" OR "esophageal well differentiated endocrine tumor/carcinoma" OR "esophageal well differentiated endocrine tumour" OR "esophagus NET" OR "esophagus neuroendocrine neoplasm" OR "esophagus neuroendocrine tumor" OR "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade" OR "neuroendocrine neoplasm of oesophagus" OR "neuroendocrine neoplasm of the oesophagus" OR "neuroendocrine tumour of oesophagus" OR "neuroendocrine tumour of the oesophagus" OR "oesophagus NET" OR "oesophagus neuroendocrine neoplasm" OR "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" OR "oesophagus neuroendocrine tumour"

Run this search on Europe PMC

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

"Neuroendocrine neoplasm of esophagus" OR "Neuroendocrine neoplasm of the esophagus" OR "Esophageal NEN" OR "Esophageal neuroendocrine neoplasm" OR "NEN of esophagus" OR "NEN of the esophagus" OR "NEN of oesophagus" OR "NEN of the oesophagus" OR "esophageal NET" OR "esophageal neuroendocrine tumor" OR "esophageal well differentiated endocrine tumor" OR "esophageal well differentiated endocrine tumor/carcinoma" OR "esophageal well differentiated endocrine tumour" OR "esophagus NET" OR "esophagus neuroendocrine neoplasm" OR "esophagus neuroendocrine tumor" OR "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade" OR "neuroendocrine neoplasm of oesophagus" OR "neuroendocrine neoplasm of the oesophagus" OR "neuroendocrine tumour of oesophagus" OR "neuroendocrine tumour of the oesophagus" OR "oesophagus NET" OR "oesophagus neuroendocrine neoplasm" OR "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" OR "oesophagus 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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neoplasm of esophagus"

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 2026-07-27T17:54:58.952Z