Renal Cell Carcinoma, Xp11-associated; Rccx1

Description

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 genes including ASPRCR1 (OMIM ) on chromosome 17q25 and PRCC (OMIM ) on 1q21, and more rarely, NONO (OMIM ) on Xq13, SFPQ (OMIM ) on 1p34, CLTC (OMIM ) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010).For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (OMIM ).

Clinical Features

Phenotypes and symptoms related to Renal Cell Carcinoma, Xp11-associated; Rccx1

  • Neoplasm
  • Carcinoma
  • Renal cell carcinoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

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Renal Cell Carcinoma, Xp11-associated; Rccx1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

BLM, BRAF, BRCA1, BRCA2, SMARCB1, KDM5C, SMO, ABI1, SSX1, SSX2, SSX4, SS18, STAG2, STAT5B, TAF15, TCF12, TERT, TFE3, TFEB, TP53 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

View the complete list with 559 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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