Translocation renal cell carcinomas: an evolving entity and a member of the microphthalmia transcription factor-associated family of tumors

TY - JOUR

T1 - Translocation renal cell carcinomas

T2 - an evolving entity and a member of the microphthalmia transcription factor-associated family of tumors

AU - Bambury, Richard M.

AU - Battley, Jodie E.

AU - McCarthy, Aoife

AU - Brady, Claire

AU - O'Reilly, Seamus

AU - Kelly, Paul J.

AU - O'Brien, Frank

AU - Sweeney, Paul

AU - Fleming, Stewart

AU - Mayer, Nick J.

AU - Power, Derek G.

PY - 2013/9

Y1 - 2013/9

N2 - Translocation renal cell carcinomas (tRCC) are a novel, rare, and distinct clinicopathologic entity first described in 2001. They are caused by genetic translocations which fuse transcription factor genes, TFE3 or TFEB, with a promoter region leading to overexpression of the transcription factor. TFE3 and TFEB are members of the MiT family of transcription factors. Other tumors also driven by overexpression of members of the MiT family include alveolar soft part sarcoma, clear cell sarcoma and 30%-40% of melanomas. Recently some authors have suggested classifying these tumors along with tRCC as the 'MiT family of cancers.' We report 3 cases of this rare subtype of renal cell carcinoma and provide an up to date literature review of the topic. This report highlights the clinical and pathologic heterogeneity of these tumors. Efforts are under way to find a therapy to target the gene fusion products or their downstream effectors which drive growth of these tumors.

AB - Translocation renal cell carcinomas (tRCC) are a novel, rare, and distinct clinicopathologic entity first described in 2001. They are caused by genetic translocations which fuse transcription factor genes, TFE3 or TFEB, with a promoter region leading to overexpression of the transcription factor. TFE3 and TFEB are members of the MiT family of transcription factors. Other tumors also driven by overexpression of members of the MiT family include alveolar soft part sarcoma, clear cell sarcoma and 30%-40% of melanomas. Recently some authors have suggested classifying these tumors along with tRCC as the 'MiT family of cancers.' We report 3 cases of this rare subtype of renal cell carcinoma and provide an up to date literature review of the topic. This report highlights the clinical and pathologic heterogeneity of these tumors. Efforts are under way to find a therapy to target the gene fusion products or their downstream effectors which drive growth of these tumors.

UR - https://www.scopus.com/pages/publications/84883356834

U2 - 10.1016/j.clgc.2012.12.006

DO - 10.1016/j.clgc.2012.12.006

M3 - Article

C2 - 23332637

AN - SCOPUS:84883356834

SN - 1558-7673

VL - 11

SP - 357

EP - 361

JO - Clinical Genitourinary Cancer

JF - Clinical Genitourinary Cancer

IS - 3

ER -