title: Incidence, clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas.
abstract: OBJECTIVE
  Translocation renal cell carcinoma (tRCC) is a rare subtype of kidney tumour characterized by translocations involving the transcription factor TFE3 or TFEB. tRCC was introduced into the World Health Organization classification in 2004, but much is still unknown about the natural history, clinicopathological features and outcomes of the disease. The aim of this study was to describe the landscape of fusion transcript in a large single-institution series of fluorescence in-situ hybridization (FISH)-confirmed tRCCs and then to compare it to morphological and clinical data.
  
  
  RESULTS
  Paired-end RNA sequencing was performed within a prospective database of the Department of Pathology, Centre Hospitalier Régional Universitaire (Lille, France). The diagnosis of tRCC was confirmed by FISH. Among a total of 1130 identified renal cell carcinomas, 21 cases (1.9%) showed rearrangement of the TFE3 (n = 20) or (TFEB) (n = 1) gene. Median patient age was 31 years (range = 15-47), and the female-to-male ratio was 6:1. Five different TFE3 fusion transcripts were identified; the most frequent TFE3 partners were PRCC (n = 4) and SFPQ (n = 4). The other partners involved were ASPCR1 (n = 1) and MED15 (n = 1) genes as well as a novel TFE3 partner, GRIPAP1.
  
  
  CONCLUSIONS
  We identified a new fusion partner, GRIPAP1. The prognostic role of transcript type could not be determined because our number of cases was too small. Four patients (19%) died of the disease, all of which presented with a lymph node involvement at diagnosis. We confirm that tRCC can be an aggressive tumour, especially those of advanced clinical stage.
authors.affiliation: Département de Pathologie, Hôpital Lariboisière, Assistance Publique Hôpitaux de Paris, Paris, France.
authors.forename: Marion
authors.identifier: http://orcid.org/0000-0002-0802-6585
authors.initials: M
authors.lastname: Classe
authors.affiliation: Département d'Oncologie Médicale, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, Institut Universitaire de Cancérologie GRC5, Paris, France.
authors.forename: Gabriel G
authors.initials: GG
authors.lastname: Malouf
authors.affiliation: Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Su
authors.affiliation: Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Yao
authors.affiliation: Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors.forename: Erika J
authors.initials: EJ
authors.lastname: Thompson
authors.affiliation: Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors.forename: Denaha J
authors.initials: DJ
authors.lastname: Doss
authors.affiliation: Département de Pathologie, Centre Hospitalier Régional Universitaire, Lille, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Grégoire
authors.affiliation: Département d'Urologie, Centre Hospitalier Régional Universitaire, Lille, France.
authors.forename: Julien
authors.identifier: http://orcid.org/0000-0001-7668-0856
authors.initials: J
authors.lastname: Lenobin
authors.affiliation: Département d'Urologie, Centre Hospitalier Régional Universitaire, Lille, France.
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Fantoni
authors.affiliation: Unité d'Oncologie Pédiatrique, Centre Anti Cancéreux Oscar Lambret, Lille, France.
authors.forename: Hélène
authors.identifier: http://orcid.org/0000-0002-1991-3585
authors.initials: H
authors.lastname: Sudour-Bonnange
authors.affiliation: Département d'Oncologie Médicale, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, Institut Universitaire de Cancérologie GRC5, Paris, France.
authors.forename: David
authors.initials: D
authors.lastname: Khayat
authors.affiliation: Département de Pathologie, Centre Hospitalier Régional Universitaire, Lille, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Aubert
authors.affiliation: Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Nizar M
authors.initials: NM
authors.lastname: Tannir
authors.affiliation: Département de Pathologie, Centre Hospitalier Régional Universitaire, Lille, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Leroy
mesh_terms: D000293:Adolescent; D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D015994:Incidence; D007680:Kidney Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002352:Carrier Proteins; C485827:GRIPAP1 protein, human; D015514:Oncogene Proteins, Fusion; C069203:TFE3 protein, human; C064972:TFEB protein, human
keywords: 
  TFE3
  ; 
  Xp11.2
  ; RNA sequencing; translocation renal cell carcinoma