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ORPHA:99976

Adenocarcinoma of the oesophagus and oesophagogastric junction

high confidenceDisorder

Also known as: Adenocarcinoma of the esophagus and the gastroesophageal junction · Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction

Publications

27,311

98.2th percentile

Trials

210

Interventional, condition-specific

Researchers

1,511

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC) affecting the glandular cells of the lower esophagus at the junction with the stomach.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

adenocarcinoma - esophagus · adenocarcinoma - oesophagus · adenocarcinoma of esophagus · adenocarcinoma of oesophagus · adenocarcinoma of the esophagus · adenocarcinoma of the oesophagus · esophageal adenocarcinoma · esophagus adenocarcinoma · oesophageal adenocarcinoma · oesophagus adenocarcinoma

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.”

4/6 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

    27,311 matched papers (17,282 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Nausea and vomiting; Gastroesophageal reflux; Barrett esophagus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Tezacitabine Source

  6. Interventional trialPresent

    210 matched on ClinicalTrials.gov (68 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)

10

Associated phenotypes · MONDO:0005028

  • Nausea and vomiting
  • Gastroesophageal reflux
  • Barrett esophagus
  • Chest pain
  • Obesity

Showing 5 of 10 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA Tezacitabineadenocarcinoma of the esophagus · 2003-01-27 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

106

Drugs / clinical candidates · MONDO_0005028

CTD chemicals (MyDisease.info)

1 associated chemical · 367 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • CF regimen · therapeutic

Pathways: Inositol phosphate metabolism; Arachidonic acid metabolism; Metabolic pathways; EGFR tyrosine kinase inhibitor resistance; Endocrine resistance; Platinum drug resistance; MAPK signaling pathway; ErbB signaling pathway

MyDisease.info · MONDO:0005028

Literature

Is anyone studying this?

27,311

27,311 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.

27,311 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).

17,282 in the last 10 years · high confidence · 98.2th percentile (publications denominator)

Phrase hits: 27,311 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,511

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
    Bruns CJ9 papers · 2026

    Faculty of Medicine and University Hospital of Cologne, Department of General, Visceral, Thoracic and Transplantation Surgery, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  2. 02
    Nilsson M8 papers · 2026

    Division of Surgery and Oncology, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Solna, Sweden; Department of Upper Abdominal Diseases, Karolinska University Hospital, Stockholm, Sweden.

    Papers in Europe PMC
  3. 03
    Van Hillegersberg R7 papers · 2026

    Department of Surgery, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  4. 04
    Fitzgerald RC6 papers · 2026

    Early Cancer Institute, Department of Oncology, University of Cambridge, Cambridge, United Kingdom; Department of Gastroenterology, Addenbrookes Hospital, Cambridge University National Health Service Foundation Trust, Cambridge, United Kingdom. Electronic address: rcf29@cam.ac.uk.

    Papers in Europe PMC
  5. 05
    Iyer PG6 papers · 2026

    Mayo Clinic, Scottsdale, AZ.

    Papers in Europe PMC
  6. 06
    Reynolds JV6 papers · 2026

    Trinity St. James's Cancer Institute, Trinity College Dublin, St. James's Hospital, Dublin, Ireland.

    Papers in Europe PMC
  7. 07
    Van Berge Henegouwen MI6 papers · 2026

    Department of Surgery, Amsterdam UMC, location University of Amsterdam, Amsterdam, the Netherlands.

    Papers in Europe PMC
  8. 08
    Coleman HG5 papers · 2026

    Cancer Epidemiology Research Group, Centre for Public Health, Queen's University Belfast, Belfast, UK.

    Papers in Europe PMC
  9. 09
    Gisbertz SS5 papers · 2026

    Department of Surgery, Amsterdam UMC, location University of Amsterdam, Amsterdam, the Netherlands.

    Papers in Europe PMC
  10. 10
    Jones CM5 papers · 2026

    Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Oncology, University of Cambridge, Cambridge, UK. Electronic address: cj480@cam.ac.uk.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

210

interventional trials for this specific condition

210 interventional trials matched this specific condition name; 68 currently recruiting in our sample. 3,482 trials are registered for adenocarcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

210 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.3th percentile).

high confidence · 99.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: adenocarcinoma

3,482

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

54 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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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).

Uncertain / not reviewed (9)

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 Adenocarcinoma of the oesophagus and oesophagogastric junction — 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.

"Adenocarcinoma of the oesophagus and oesophagogastric junction" OR "Adenocarcinoma of oesophagus and oesophagogastric junction" OR "Adenocarcinoma of the esophagus and the gastroesophageal junction" OR "Adenocarcinoma of esophagus and the gastroesophageal junction" OR "Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction" OR "Esophageal adenocarcinoma and adenocarcinoma of esophagogastric junction" OR "adenocarcinoma - esophagus" OR "adenocarcinoma - oesophagus" OR "adenocarcinoma of esophagus" OR "adenocarcinoma of the esophagus" OR "adenocarcinoma of oesophagus" OR "adenocarcinoma of the oesophagus" OR "esophageal adenocarcinoma" OR "esophagus adenocarcinoma" OR "oesophageal adenocarcinoma" OR "oesophagus adenocarcinoma"

Run this search on Europe PMC

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

"Adenocarcinoma of the oesophagus and oesophagogastric junction" OR "Adenocarcinoma of oesophagus and oesophagogastric junction" OR "Adenocarcinoma of the esophagus and the gastroesophageal junction" OR "Adenocarcinoma of esophagus and the gastroesophageal junction" OR "Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction" OR "Esophageal adenocarcinoma and adenocarcinoma of esophagogastric junction" OR "adenocarcinoma - esophagus" OR "adenocarcinoma - oesophagus" OR "adenocarcinoma of esophagus" OR "adenocarcinoma of the esophagus" OR "adenocarcinoma of oesophagus" OR "adenocarcinoma of the oesophagus" OR "esophageal adenocarcinoma" OR "esophagus adenocarcinoma" OR "oesophageal adenocarcinoma" OR "oesophagus adenocarcinoma"

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: 210 interventional · 54 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"adenocarcinoma"

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 2026-07-27T06:49:02.178Z