Translocation renal cell carcinoma

General Information (adopted from Orphanet):

Synonyms, Signs: RCCX1
Translocation carcinoma
Carcinoma associated with MITF/TFE translocation
Number of Symptoms 2
OrphanetNr: 319308
OMIM Id: 300854
ICD-10: C64
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Non-familial renal cell carcinoma
 -Rare oncologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0005584) Renal cell carcinoma 13 / 7739
2
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported ...
Clinical Description OMIM Perot et al. (2003) reported 5 cases of juvenile renal cell carcinoma with translocations involving Xp11.2. Tumor tissue from a 12-year-old boy and a 14-year-old girl both had a t(X;1)(p11.2;q21) translocation, tumor tissue from a 9-year-old boy and ...