title: A unique case of renal carcinoma with Xp11.2 translocations/ TFE3 gene fusions in a 3-year-old child, with coexistent von Hippel-Lindau gene mutation.
abstract: Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau ( VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.
authors.affiliation: Department of Pathology, Room G167, Emory University Hospital, 1364 Clifton Road NE, Atlanta, GA 30322, USA.
authors.forename: Mana M
authors.initials: MM
authors.lastname: Parast
authors.forename: Grant
authors.initials: G
authors.lastname: Eudy
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Gow
authors.forename: Mahul
authors.initials: M
authors.lastname: Amin
authors.forename: Bahig
authors.initials: B
authors.lastname: Shehata
mesh_terms: D019677:Artificial Gene Fusion; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; C069203:TFE3 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human