Malignant renal pelvis neoplasm
diseaseOn this page
Also known as cancer of renal pelvismalignant neoplasm of renal pelvismalignant neoplasm of the renal pelvismalignant renal pelvis tumormalignant renal pelvis tumourmalignant tumor of renal pelvismalignant tumor of the renal pelvismalignant tumour of renal pelvismalignant tumour of the renal pelvisrenal pelvis cancer
Summary
Malignant renal pelvis neoplasm (MONDO:0044919) is a cancer with 9 GWAS associations across 4 studies and 30 clinical trials. Top therapeutic interventions include cabozantinib, cisplatin, and enfortumab vedotin. A subtype of kidney cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- GWAS associations: 9
- Clinical trials: 30
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | malignant renal pelvis neoplasm |
| Mondo ID | MONDO:0044919 |
| NCIT | C7525 |
| UMLS | C0153618 |
| MedGen | 57793 |
| Anatomy (UBERON) | UBERON:0001224 |
| Is cancer (heuristic) | yes |
Also known as: cancer of renal pelvis · malignant neoplasm of renal pelvis · malignant neoplasm of the renal pelvis · malignant renal pelvis neoplasm · malignant renal pelvis tumor · malignant renal pelvis tumour · malignant tumor of renal pelvis · malignant tumor of the renal pelvis · malignant tumour of renal pelvis · malignant tumour of the renal pelvis · renal pelvis cancer
Data availability: 9 GWAS associations (4 studies).
Disease family
This is a subtype of kidney cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › malignant urinary system neoplasm › kidney cancer › malignant renal pelvis neoplasm
Related subtypes (7): kidney sarcoma, mesoblastic nephroma, renal carcinoma, kidney Wilms tumor, Graham-Boyle-Troxell syndrome, malignant mixed epithelial stromal tumor of the kidney, childhood malignant kidney neoplasm
Subtypes (1): renal pelvis carcinoma
Genetics & variants
GWAS landscape
9 GWAS associations across 4 studies. Top hits map to 7 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs367995703 | 6e-17 | LINC01684 - LINC01692 | T | 2.52 |
| rs184701620 | 6e-12 | RPH3AL | G | 1.71 |
| rs530785118 | 1e-11 | RPL21P24 - ATP6V0E1P4 | G | 3.18 |
| rs571552226 | 1e-11 | GNAI1 | T | 3.26 |
| rs554455398 | 2e-11 | CATSPERE | G | 3.61 |
| rs77012147 | 2e-11 | MDGA2 | C | 1.71 |
| rs545480897 | 3e-11 | STX2 | T | 3.45 |
| rs566048868 | 4e-11 | LGR4-AS1 | T | 2.07 |
| rs570834112 | 4e-11 | FANCA | A | 2.92 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477211 | Verma A | 2024 | 1,216 | 449,113 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479807 | Verma A | 2024 | 282 | 121,360 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481515 | Verma A | 2024 | 282 | 121,360 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435618 | Zhou W | 2018 | 65 | 404,796 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 8 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 9 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 6 |
| intergenic_variant | 2 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs367995703 | 21 | 24794592 | T>A,G | 0.001 | intergenic_variant | LINC01684 - LINC01692 | 6e-17 | Tier 4: intronic/intergenic |
| rs184701620 | 17 | 266499 | G>A,C,T | 0.003 | intron_variant | RPH3AL | 6e-12 | Tier 4: intronic/intergenic |
| rs530785118 | 1 | 47533568 | G>T | 0 | regulatory_region_variant | RPL21P24 - ATP6V0E1P4 | 1e-11 | Tier 3: regulatory |
| rs571552226 | 7 | 80003969 | T>G | 0.001 | intergenic_variant | GNAI1 | 1e-11 | Tier 4: intronic/intergenic |
| rs554455398 | 1 | 244618234 | G>A | 0 | intron_variant | CATSPERE | 2e-11 | Tier 4: intronic/intergenic |
| rs77012147 | 14 | 47292789 | C>G | 0.002 | intron_variant | MDGA2 | 2e-11 | Tier 4: intronic/intergenic |
| rs545480897 | 12 | 130816431 | T>C | 0.001 | intron_variant | STX2 | 3e-11 | Tier 4: intronic/intergenic |
| rs566048868 | 11 | 27479899 | T>C | 0.001 | intron_variant | LGR4-AS1 | 4e-11 | Tier 4: intronic/intergenic |
| rs570834112 | 16 | 89746047 | A>G | 0 | intron_variant | FANCA | 4e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 30.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 11 |
| PHASE1 | 7 |
| Not specified | 7 |
| PHASE3 | 3 |
| PHASE1/PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05092958 | PHASE3 | ACTIVE_NOT_RECRUITING | Testing the Addition of the Anti-cancer Drug, Cabozantinib, to the Usual Immunotherapy Treatment, Avelumab, in Patients With Metastatic Urothelial Cancer, MAIN-CAV Study |
| NCT06661720 | PHASE3 | RECRUITING | Testing the Addition of the Anti-Cancer Drug Tivozanib to Immunotherapy (Pembrolizumab) After Surgery to Remove All Known Sites of Kidney Cancer |
| NCT00942331 | PHASE3 | COMPLETED | Gemcitabine Hydrochloride and Cisplatin With or Without Bevacizumab in Treating Patients With Advanced Urinary Tract Cancer |
| NCT03237780 | PHASE2 | ACTIVE_NOT_RECRUITING | Atezolizumab With or Without Eribulin Mesylate in Treating Patients With Recurrent Locally Advanced or Metastatic Urothelial Cancer |
| NCT04848519 | PHASE2 | ACTIVE_NOT_RECRUITING | Immune Checkpoint Inhibitors With or Without Propranolol Hydrochloride In Patients With Urothelial Carcinoma |
| NCT04940299 | PHASE2 | ACTIVE_NOT_RECRUITING | Tocilizumab, Ipilimumab, and Nivolumab for the Treatment of Advanced Melanoma, Non-Small Cell Lung Cancer, or Urothelial Carcinoma |
| NCT04953104 | PHASE2 | ACTIVE_NOT_RECRUITING | ARID1A and/or KDM6A Mutation and CXCL13 Expression |
| NCT05756569 | PHASE2 | RECRUITING | Enfortumab Vedotin Plus Pembrolizumab for the Treatment of Locally Advanced or Metastatic Bladder Cancer of Variant Histology |
| NCT00661609 | PHASE2 | COMPLETED | A Phase II Study of AZD4877 (a Novel Anti-mitotic Agent) in Advanced Bladder Cancer |
| NCT00749892 | PHASE2 | COMPLETED | Erlotinib Hydrochloride in Treating Participants With Muscle Invasive or Recurrent Urothelial Cancer |
| NCT01326871 | PHASE1/PHASE2 | COMPLETED | A Study of ALT-801 in Combination With Cisplatin and Gemcitabine in Muscle Invasive or Metastatic Urothelial Cancer |
| NCT02665039 | PHASE2 | COMPLETED | A Trial With Vinflunine in Patients With Metastatic Bladder Cancer and Impaired Renal Function |
| NCT03513952 | PHASE2 | COMPLETED | Atezolizumab and CYT107 in Treating Participants With Locally Advanced, Inoperable, or Metastatic Urothelial Carcinoma |
| NCT03617913 | PHASE2 | COMPLETED | Avelumab in Combination With Fluorouracil and Mitomycin or Cisplatin and Radiation Therapy in Treating Participants With Muscle-Invasive Bladder Cancer |
| NCT04398368 | PHASE2 | TERMINATED | Gemcitabine for the Prevention of Intravesical Recurrence of Urothelial Cancer in Patients With Upper Urinary Tract Urothelial Cancer Undergoing Radical Nephroureterectomy, GEMINI Study |
| NCT02496208 | PHASE1 | ACTIVE_NOT_RECRUITING | Cabozantinib S-malate and Nivolumab With or Without Ipilimumab in Treating Patients With Metastatic Genitourinary Tumors |
| NCT04963153 | PHASE1 | ACTIVE_NOT_RECRUITING | Testing Combination Erdafitinib and Enfortumab Vedotin in Metastatic Bladder Cancer After Treatment With Chemotherapy and Immunotherapy |
| NCT06238479 | PHASE1 | ACTIVE_NOT_RECRUITING | A Study of LY4101174 in Participants With Recurrent, Advanced or Metastatic Solid Tumors |
| NCT06465069 | PHASE1 | RECRUITING | A Study of LY4052031 in Participants With Advanced or Metastatic Urothelial Cancer or Other Solid Tumors |
| NCT01182168 | PHASE1 | COMPLETED | Gemcitabine and Split-Dose Cisplatin Plus Everolimus (RAD001) in Patients With Advanced Solid Tumor Malignancies |
| NCT01844947 | PHASE1 | COMPLETED | Phase I Study With Sorafenib in Addition to Vinflunine in Metastatic Transitional Cell Carcinoma of the Urothelial Tract |
| NCT02300610 | PHASE1 | COMPLETED | Enzalutamide in Combination With Gemcitabine and Cisplatin in Bladder Cancer |
| NCT02812420 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | Durvalumab and Tremelimumab in Treating Patients With Muscle-Invasive, High-Risk Urothelial Cancer That Cannot Be Treated With Cisplatin-Based Therapy Before Surgery |
| NCT00902590 | Not specified | ACTIVE_NOT_RECRUITING | A Genotype-Phenotype Urothelial Cancer Registry |
| NCT06427993 | Not specified | NOT_YET_RECRUITING | Urine DNA Methylation Detection for Hematuria Evaluation |
| NCT06469229 | Not specified | NOT_YET_RECRUITING | Performance Evaluation of Urine DNA Methylation Testing for the Detection of Urothelial Carcinoma in Patients With Hematuria |
| NCT06652009 | Not specified | RECRUITING | Radical Radiotherapy Versus Radical Surgery for UTUC |
| NCT01138124 | Not specified | COMPLETED | Gabapentin and Risk of Pancreatic Cancer and Renal Cancer (GPRD) |
| NCT01236053 | Not specified | COMPLETED | Cancer in Patients With Gabapentin (GPRD) |
| NCT03662204 | Not specified | COMPLETED | Blood Sample Collection to Evaluate Biomarkers in Subjects With Untreated Solid Tumors |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CABOZANTINIB | 4 | 4 |
| CISPLATIN | 4 | 4 |
| ENFORTUMAB VEDOTIN | 4 | 2 |
| TIVOZANIB | 4 | 2 |
| VINFLUNINE | 4 | 2 |
| AVELUMAB | 4 | 1 |
| ERDAFITINIB | 4 | 1 |
| ERIBULIN MESYLATE | 4 | 1 |
| GEMCITABINE | 4 | 1 |
| RELATLIMAB | 4 | 1 |
| AZD-4877 | 2 | 1 |
| PEMVIDUTIDE | 2 | 1 |