Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma

Cancer Genet. 2011 Feb;204(2):108-10. doi: 10.1016/j.cancergencyto.2010.10.006.

Abstract

Xp11.2 translocation-associated renal cell carcinoma (RCC) is a rare tumor that accounts for at least one-third of childhood RCC. Different reports have emphasized that previous radio/chemotherapy might be involved in its pathogenesis. We describe a child who developed a t(X;1)(p11.2;p34) associated RCC after previous treatment for genitourinary rhabdomyosarcoma in infancy. The presence of the PSF-TFE3 fusion has only been described in a very limited number of cases. Our report expands the spectrum of tumors in which RCC can arise in the pediatric age group after chemotherapy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Male
  • Oncogene Fusion*
  • PTB-Associated Splicing Factor
  • RNA-Binding Proteins / genetics*
  • Rhabdomyosarcoma / complications
  • Rhabdomyosarcoma / drug therapy
  • Urogenital Neoplasms / complications
  • Urogenital Neoplasms / drug therapy

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • PTB-Associated Splicing Factor
  • RNA-Binding Proteins
  • TFE3 protein, human