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ORPHA:44890

Gastrointestinal stromal tumor

medium confidenceDisorder

Also known as: GIST · Gastrointestinal stromal sarcoma

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

31,208

99.1th percentile

Trials

250

Interventional, condition-specific

Researchers

1,124

Distinct authors in sample

Gene link

KIT, PDGFRA, SDHB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

Gastrointestinal Stromal Tumors · gastrointestinal stromal neoplasm · gastrointestinal stromal sarcoma · gastrointestinal stromal tumor · gastrointestinal stromal tumor (gist) · gastrointestinal stromal tumor, familial, isolated cases · gastrointestinal stromal tumor, isolated cases · gastrointestinal stromal tumour (gist) · gist

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 identifiedPresent

    Definitive — KIT, PDGFRA, SDHB, SDHC

  2. LiteraturePresent

    31,208 matched papers (17,879 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    250 matched on ClinicalTrials.gov (36 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 (KIT, PDGFRA, SDHB…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

31,208

31,208 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=5449) is 41.

31,208 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

17,879 in the last 10 years · medium confidence · 99.1th percentile (publications denominator)

Phrase hits: 31,208 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,124

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
    Wang H7 papers · 2026

    Department of General Surgery, GI Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  2. 02
    Zhou Y7 papers · 2026

    Department of Gastroenterology, Xuancheng People's Hospital, Affiliated Xuancheng Hospital Wannan Medical College, Xuancheng, Anhui, China.

    Papers in Europe PMC
  3. 03
    Li J6 papers · 2026

    Key laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of GI Oncology, Peking University Cancer Hospital and Institute, Beijing, China.

    Papers in Europe PMC
  4. 04
    Zhang X6 papers · 2026

    Department of Pathology and Laboratory Medicine, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  5. 05
    Wang S5 papers · 2026

    Gastroenterology, Huazhong University of Science and Technology Tongji Medical College Union Hospital, Wuhan, China.

    Papers in Europe PMC
  6. 06
    Hirano H4 papers · 2026

    Department of Gastrointestinal Medical Oncology, National Cancer Center Hospital, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Liu Z4 papers · 2026

    Department of Gastrointestinal Surgery, Department of General Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  8. 08
    Nishida T4 papers · 2026

    Japan Community Health Care Organization, Osaka Hospital Osaka Japan.

    Papers in Europe PMC
  9. 09
    Sicklick JK4 papers · 2026

    Division of Surgical Oncology, Department of Surgery, University of California San Diego, San Diego, CA.

    Papers in Europe PMC
  10. 10
    Sun J4 papers · 2026

    Department of Ultrasound, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

250

interventional trials for this specific condition

250 interventional trials matched this specific condition name; 36 currently recruiting in our sample.

Data as of 27 July 2026

250 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.5th percentile).

medium confidence · 99.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

65 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Gastrointestinal stromal tumor" OR "Gastrointestinal stromal sarcoma" OR "Gastrointestinal Stromal Tumors" OR "gastrointestinal stromal neoplasm" OR "gastrointestinal stromal tumor (gist)" OR "gastrointestinal stromal tumor, familial, isolated cases" OR "gastrointestinal stromal tumor, isolated cases" OR "gastrointestinal stromal tumour (gist)"

Run this search on Europe PMC

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

"Gastrointestinal stromal tumor" OR "Gastrointestinal stromal sarcoma" OR "Gastrointestinal Stromal Tumors" OR "gastrointestinal stromal neoplasm" OR "gastrointestinal stromal tumor (gist)" OR "gastrointestinal stromal tumor, familial, isolated cases" OR "gastrointestinal stromal tumor, isolated cases" OR "gastrointestinal stromal tumour (gist)" OR "SDHC"

Recall-expansion terms: SDHC

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: 250 interventional · 65 observational · 7 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: GIST

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:07:34.927Z