ORPHA:598216
Upper tract urothelial carcinoma
Also known as: Transitional cell carcinoma of the pelvis and ureter · Transitional cell carcinoma of the upper urinary tract · UTUC
Clinical definition (Orphanet)
A rare urinary tract tumor characterized by a malignant neoplasm arising from urothelial cells of the pyelocaliceal cavities and ureter. The tumor may be multifocal and bilateral in some cases and is more common in males than in females. Cigarette smoking and occupational exposure are major risk factors. Patients most commonly present with visible or non-visible hematuria and/or flank pain due to obstruction of the flow of urine by tumor tissue, or (less often) to local tumor growth. Systemic symptoms such as anorexia, weight loss, malaise, fatigue, fever, night sweats, or cough can be associated with advanced stages.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
4,295
4,295 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=183) is 38.
4,295 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
3,366 in the last 10 years · low confidence
Is a treatment being tested?
39
trials for this specific condition
39 interventional trials matched this specific condition name; 21 currently recruiting in our sample.
Data as of 26 July 2026
39 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 94.5th percentile).
low confidence · 94.5th percentile (trials denominator)
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.
Who's working on it?
1,359
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.
- 01Singla N10 papers · 2026
Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, USA.
Papers in Europe PMC - 02Zhang S10 papers · 2026
Department of Urology, Peking University Third Hospital, Peking University Health Science Center, Beijing, China. Electronic address: zhangshudong@bjmu.edu.cn.
Papers in Europe PMC - 03Li X9 papers · 2026
Department of Urology and Institute of Urology, West China Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 04Zhang Y9 papers · 2026
State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou 510060, P. R. China.
Papers in Europe PMC - 05Zhang H8 papers · 2026
Department of Urology, Peking University Third Hospital, Peking University Health Science Center, Beijing, China.
Papers in Europe PMC - 06Margulis V7 papers · 2026
Department of Urology, UT Southwestern School of Medicine, Dallas, TX, USA.
Papers in Europe PMC - 07Raman JD7 papers · 2026
Department of Urology, Penn State Health Milton S Hershey Medical Center, Hershey, PA. Electronic address: jraman@pennstatehealth.psu.edu.
Papers in Europe PMC - 08Liedberg F6 papers · 2026
Department of Urology Skåne University Hospital Malmö Sweden.
Papers in Europe PMC - 09Matin SF6 papers · 2026
Department of Urology, University of Texas MD Anderson Cancer Center, Houston, TX, USA. Electronic address: surmatin@mdanderson.org.
Papers in Europe PMC - 10Antonelli A5 papers · 2026
Department of Urology, University of Verona, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
39 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07321210·Radical Nephroureterectomy With vs Without Template Lymph Node Dissection in High-Risk Upper Tract Urothelial Carcinoma (T-LND UTUC)
- NCT07265947·Phase 2A/B Efficacy and Safety of Dabogratinib in Participants With Low Grade Upper Tract Urothelial Carcinoma
- NCT06040762·A Home-Based Prehabilitation Exercise Intervention for Improving Physical Function in Patients With Bladder Cancer and Upper Tract Urothelial Cancer, Get Moving Trial
- NCT07225374·Cisplatin-Based Chemotherapy Followed by Maintenance Avelumab in UTUC
- NCT04865939·Gemcitabine Versus Water Irrigation in Upper Tract Urothelial Carcinoma
- NCT05837806·Efficacy and Safety of Tislelizumab in Combination With Disitamab-vedotin as Neoadjuvant Therapy for HER2-positive High-risk Upper Tract Urothelial Carcinoma (UTUC)
- NCT07126119·Neoadjuvant Tislelizumab in Combination With Nab-Paclitaxel for UTUC
- NCT07492628·Dual-Target Nectin-4/HER2 CAR-NK Cells in Advanced Urothelial Carcinoma
- NCT05979909·Intravesical Mitomycin C After Diagnostic Ureteroscopy for Upper Tract Urothelial Carcinoma
- NCT06848868·Ambulatory Flexible URS for UTUC Surveillance
- NCT06927128·Neoadjuvant Chemotherapy in High - Risk Upper Tract Urothelial Carcinoma
- NCT07498907·Disitamab Vedotin Plus Radiotherapy for Adjuvant Treatment of HER2-Expressing Cisplatin-Ineligible Upper Tract Urothelial Carcinoma
- NCT05917158·A Study of RC48-ADC Combined with JS001 for Postoperative Adjuvant Treatment of Upper Tract Urothelial Carcinoma
- NCT06948552·Photodynamic Diagnosis of Upper Tract Urothelial Carcinoma Using Fluorescence Endoscopy and Oral 5-ALA
- NCT07557563·Flexible Ureterorenoscopy for Surveillance of Upper Tract Urothelial Carcinoma
Observational and natural-history studies
15 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
- NCT06798246·HEFTME System for Adjuvant Therapeutic Selection of Locally Advanced UTUC Postoperatively：A Perspective Cohort Study
- NCT06204406·Prognosis of Patients With Upper Tract Urothelial Carcinoma Receiving Kidney-sparing Therapy
- NCT07452432·Korean Prospective Upper Tract Urothelial Carcinoma Cohort
- NCT07633353·Real-World Outcomes of First-Line Treatment of Metastatic or Locally Advanced Upper Tract Urothelial Carcinoma With Enfortumab Vedotin Plus Pembrolizumab : A French Multicenter Retrospective Observational Study
- NCT07504939·Multimodal Kidney-Sparing Strategy for High-Risk Upper Tract Urothelial Carcinoma
- NCT07614594·Non-invasive Urinary Genomics-Based Risk Assessment for Early Urothelial Carcinoma Diagnosis
- NCT05595408·Circulating and Urine Tumor DNA Dynamics Predict Minimal Residual Disease and Recurrence Risk in Locally Advanced Upper Tract Urothelial Carcinoma
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 2026-07-26This 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 below but are not added to the query string.
"Upper tract urothelial carcinoma" OR "Transitional cell carcinoma of the pelvis and ureter" OR "Transitional cell carcinoma of the upper urinary tract"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Upper tract urothelial carcinoma" OR "Transitional cell carcinoma of the pelvis and ureter" OR "Transitional cell carcinoma of pelvis and ureter" OR "Transitional cell carcinoma of the upper urinary tract" OR "Transitional cell carcinoma of upper urinary tract"
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: 39 interventional · 15 observational · 1 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: UTUC
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
- Publication count (4295) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity