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ORPHA:404514

Acquired cystic disease-associated renal cell carcinoma

high confidenceDisorder

Publications

103

62.7th percentile

Trials

0

Interventional, condition-specific

Researchers

658

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.

Orphanet entry

Cross-references

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

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    103 matched papers (80 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 trialPartial

    None under the specific name; 1169 for broader category renal cell carcinoma

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)

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?

103

103 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=5449) is 41.

103 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).

80 in the last 10 years · high confidence · 62.7th percentile (publications denominator)

Phrase hits: 103 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

658

Distinct author names in 103 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kuroda N10 papers · 2021

    Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi University, Japan. kurochankochi@yahoo.co.jp

    Papers in Europe PMC
  2. 02
    Hes O6 papers · 2021

    Department of Pathology, Charles University in Prague, Faculty of Medicine in Pilsen and University Hospital Pilsen, Czech Republic. Electronic address: hes@medima.cz.

    Papers in Europe PMC
  3. 03
    Lee GH5 papers · 2011
    Papers in Europe PMC
  4. 04
    Michal M5 papers · 2011
    Papers in Europe PMC
  5. 05
    Kojima F4 papers · 2024

    Departments of Human Pathology.

    Papers in Europe PMC
  6. 06
    Kondo T4 papers · 2025

    Department of Urology, Tokyo Women's Medical University.

    Papers in Europe PMC
  7. 07
    Murata SI4 papers · 2024

    Departments of Human Pathology.

    Papers in Europe PMC
  8. 08
    Nagashima Y4 papers · 2025

    Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Japan. ynagas@med.yokohama-cu.ac.jp

    Papers in Europe PMC
  9. 09
    Tickoo SK4 papers · 2018

    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.

    Papers in Europe PMC
  10. 10
    Tsuzuki T4 papers · 2025

    Department of Surgical Pathology, Aichi Medical University Hospital, Nagakute, Aichi, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1,169 trials are registered for renal cell carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

1,169 interventional trials matched renal cell carcinoma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: renal cell carcinoma

1,169

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

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.

"Acquired cystic disease-associated renal cell carcinoma"

Run this search on Europe PMC

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

"Acquired cystic disease-associated renal cell carcinoma"

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

Parent-category trials query:

"renal cell carcinoma"

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 2026-07-27T15:36:21.538Z