title: Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma.
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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Oncology, University of São Paulo, Brazil. marsol@rge.fmrp.usp.br
authors.forename: María Sol
authors.initials: MS
authors.lastname: Brassesco
authors.forename: Elvis Terci
authors.initials: ET
authors.lastname: Valera
authors.forename: Thais Alcantara
authors.initials: TA
authors.lastname: Bonilha
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Carvalho de Oliveira
authors.forename: Julia Alejandra
authors.initials: JA
authors.lastname: Pezuk
authors.forename: Gyl Eanes
authors.initials: GE
authors.lastname: Barros Silva
authors.forename: Roberto Silva
authors.initials: RS
authors.lastname: Costa
authors.forename: Luiz Gonzaga
authors.initials: LG
authors.lastname: Tone
mesh_terms: D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D050596:Oncogene Fusion; D000072670:PTB-Associated Splicing Factor; D016601:RNA-Binding Proteins / Q000235:genetics*; D012208:Rhabdomyosarcoma / Q000150:complications / Q000188:drug therapy; D014565:Urogenital Neoplasms / Q000150:complications / Q000188:drug therapy
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D000072670:PTB-Associated Splicing Factor; D016601:RNA-Binding Proteins; C069203:TFE3 protein, human