renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

Summary

renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions (MONDO:0006397) is a cancer and 4 clinical trials. Top therapeutic interventions include cabozantinib, axitinib, and sunitinib malate. A subtype of renal cell adenocarcinoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions
Mondo ID	MONDO:0006397
EFO	EFO:1000508
DOID	DOID:0081415
NCIT	C27891
UMLS	C1337036
MedGen	235005
GARD	0024396
Is cancer (heuristic)	yes

Also known as: renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions · renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions · TFE3-Rearranged renal cell carcinoma · translocation-associated renal cell carcinoma · tRCC · Xp11.2 translocation-related renal cell carcinoma

Data availability: 7 cell lines.

Disease family

This is a subtype of renal cell adenocarcinoma. 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: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › adenocarcinoma › renal cell carcinoma › renal cell adenocarcinoma › renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

Related subtypes (8): childhood kidney cell carcinoma, hereditary renal cell carcinoma, sarcomatoid renal cell carcinoma, clear cell renal carcinoma, papillary renal cell carcinoma, chromophobe renal cell carcinoma, renal cell carcinoma associated with neuroblastoma, tubulocystic renal cell carcinoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	3
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03541902	PHASE2	ACTIVE_NOT_RECRUITING	Cabozantinib or Sunitinib Malate in Treating Participants With Metastatic Variant Histology Renal Cell Carcinoma
NCT03595124	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Compare Treatments for a Type of Kidney Cancer Called TFE/Translocation Renal Cell Carcinoma (tRCC)
NCT03685448	PHASE2	COMPLETED	ANZUP - Non-clear Cell Post Immunotherapy CABozantinib (UNICAB)
NCT00898365	Not specified	COMPLETED	Study of Kidney Tumors in Younger Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CABOZANTINIB	4	2
AXITINIB	4	1
SUNITINIB MALATE	4	1
CHEMBL4215501	0	2
CHEMBL4849721	0	2
EXELIXIS	0	2
CHEMBL3109278	0	1
CHEMBL3939307	0	1