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ORPHA:319325

Tubulocystic renal cell carcinoma

high confidenceDisorder

Publications

568

78.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,092

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Tubulocystic renal cell cancer

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

    568 matched papers (336 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?

568

568 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

568 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).

336 in the last 10 years · high confidence · 78.1th percentile (publications denominator)

Phrase hits: 568 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,092

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
    Hes O8 papers · 2023

    Department of Pathology, Charles University in Prague, Faculty of Medicine and University Hospital in Plzen, Plzen, Czech Republic.

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

    Department of Medical Ultrasonics, Institute of Diagnostic and Interventional Ultrasound, The First Affiliated Hospital of Sun Yat-Sen University, No.58 Zhongshan Road 2, Guangzhou, 510080, People's Republic of China. wyan29@mail.sysu.edu.cn.

    Papers in Europe PMC
  3. 03
    Zhang Y7 papers · 2026

    Department of Radiology, Ningbo Medical Center LiHuiLi Hospital, 1111 Jiangnan road, Ningbo, 315040, Zhejiang, People's Republic of China. zyqa666888@163.com.

    Papers in Europe PMC
  4. 04
    Li Y6 papers · 2026

    Department of Neurosurgery, Shaanxi Provincial People's Hospital, Xi'an, China.

    Papers in Europe PMC
  5. 05
    Liu Y6 papers · 2025

    Department of Pathology, Wannan Medical College First Affiliated Hospital, Yijishan Hospital, Wuhu, Anhui, China.

    Papers in Europe PMC
  6. 06
    Trpkov K6 papers · 2026

    Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. kiril.trpkov@albertaprecisionlabs.ca.

    Papers in Europe PMC
  7. 07
    Xu Y6 papers · 2025

    Department of Pathology, Guiqian International General Hospital, Guiyang City, Guizhou Province, China.

    Papers in Europe PMC
  8. 08
    Li L5 papers · 2025

    Department of Cardiology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, China.

    Papers in Europe PMC
  9. 09
    Mehra R5 papers · 2026

    Department of Pathology and Michigan Center for Translational Pathology, University of Michigan Medical School, Ann Arbor, MI, USA.

    Papers in Europe PMC
  10. 10
    Wang Z5 papers · 2025

    Department of Radiology, Zhongxiang People's Hospital, No. 19, Xiangyun Avenue, Zhongxiang, 431900, 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. 1,168 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 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: renal cell carcinoma

1,168

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 Tubulocystic renal cell carcinoma — 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.

"Tubulocystic renal cell carcinoma" OR "Tubulocystic renal cell cancer"

Run this search on Europe PMC

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

"Tubulocystic renal cell carcinoma" OR "Tubulocystic renal cell cancer"

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:

"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 2026-07-27T13:26:36.969Z