title: An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report.
abstract: BACKGROUND
  Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data.
  
  
  METHODS
  Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity. In some areas, non-adhesive tumor cells with eccentric nuclei were observed. Immunohistochemically (IHC), the tumor cells are positive for TFE3 and the renal tubular markers (PAX2 and PAX8), and completely negative for SMARCB1, an oncosuppressor protein. Break-apart florescence in situ hybridization and reverse transcription polymerase chain reaction confirmed TFE3 rearrangement on Xp11.2 and the presence of ASPSCR1-TFE3 fusion gene. DNA sequencing revealed a frameshift mutation in exon 4 of SMARCB1 gene.
  
  
  CONCLUSIONS
  It is important to recognize this rare RCC with both TFE3 rearrangement and SMARCB1 inactivation, as the prognosis and therapeutic strategies, particularly targeted therapies for such tumors, might be different.
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
authors.forename: Lu
authors.initials: L
authors.lastname: Yu
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
authors.forename: Jun
authors.initials: J
authors.lastname: Li
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
authors.forename: Sanpeng
authors.initials: S
authors.lastname: Xu
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
authors.forename: Mariajose
authors.initials: M
authors.lastname: Navia Miranda
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
authors.forename: Guoping
authors.initials: G
authors.lastname: Wang
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China. yqduan@hust.edu.cn.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China. yqduan@hust.edu.cn.
authors.forename: Yaqi
authors.initials: Y
authors.lastname: Duan
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D014408:Biomarkers, Tumor / Q000235:genetics*; D001706:Biopsy; D002292:Carcinoma, Renal Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D005091:Exons; D015321:Gene Rearrangement; D020868:Gene Silencing; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000175:diagnosis; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009392:Nephrectomy; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000071796:SMARCB1 Protein / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; D047908:Intracellular Signaling Peptides and Proteins; D015514:Oncogene Proteins, Fusion; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; C069203:TFE3 protein, human
keywords: Kidney; Renal cell carcinoma; SMARCB1; TFE3; Xp11.2