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.
Copyright © 2011 Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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Carcinoma, Renal Cell / genetics*
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Carcinoma, Renal Cell / pathology
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Gene Expression Regulation, Neoplastic
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Humans
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Kidney Neoplasms / genetics*
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Kidney Neoplasms / pathology
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Male
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Oncogene Fusion*
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PTB-Associated Splicing Factor
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RNA-Binding Proteins / genetics*
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Rhabdomyosarcoma / complications
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Rhabdomyosarcoma / drug therapy
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Urogenital Neoplasms / complications
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Urogenital Neoplasms / drug therapy
Substances
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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PTB-Associated Splicing Factor
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RNA-Binding Proteins
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TFE3 protein, human