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Incidence, clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas
Author(s) -
Classe Marion,
Malouf Gabriel G,
Su Xiaoping,
Yao Hui,
Thompson Erika J,
Doss Denaha J,
Grégoire Valérie,
Lenobin Julien,
Fantoni JeanChristophe,
SudourBonnange Hélène,
Khayat David,
Aubert Sébastien,
Tannir Nizar M,
Leroy Xavier
Publication year - 2017
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.13167
Subject(s) - chromosomal translocation , fusion gene , tfeb , fluorescence in situ hybridization , lymph node , biology , incidence (geometry) , pathology , cancer research , gene , medicine , transcription factor , genetics , chromosome , physics , optics
Aims Translocation renal cell carcinoma ( tRCC ) is a rare subtype of kidney tumour characterized by translocations involving the transcription factor TFE 3 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 tRCC s and then to compare it to morphological and clinical data. Methods and 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 TFE 3 ( 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 TFE 3 fusion transcripts were identified; the most frequent TFE 3 partners were PRCC ( n = 4) and SFPQ ( n = 4). The other partners involved were ASPCR 1 ( n = 1) and MED 15 ( n = 1) genes as well as a novel TFE 3 partner, GRIPAP 1 . Conclusions We identified a new fusion partner, GRIPAP 1 . 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.