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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

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Incidence, clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas

Marion Classe1, Gabriel G Malouf2, Xiaoping Su3

  • 1Département de Pathologie, Hôpital Lariboisière, Assistance Publique Hôpitaux de Paris, Paris, France.

Histopathology
|January 21, 2017
PubMed
Abstract

Insights

Translocation renal cell carcinoma (tRCC) is a rare kidney cancer. This study identified a new fusion partner, GRIPAP1, in tRCC and confirmed its aggressive nature, particularly in advanced stages.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Translocation renal cell carcinoma (tRCC) is a rare kidney tumor subtype characterized by TFE3 or TFEB gene translocations.
  • Despite its classification in 2004, much remains unknown about tRCC's natural history, clinicopathological features, and outcomes.

Purpose of the Study:

  • To characterize the landscape of fusion transcripts in a large series of fluorescence in-situ hybridization (FISH)-confirmed tRCC cases.
  • To correlate fusion transcript data with morphological and clinical information.

Main Methods:

  • Paired-end RNA sequencing was conducted on a prospective database.
  • Diagnosis of tRCC was confirmed using FISH.
  • Analysis included 21 tRCC cases out of 1130 identified renal cell carcinomas.

Main Results:

  • The study identified TFE3 gene rearrangements in 20 cases and TFEB in 1 case.
  • Five distinct TFE3 fusion transcripts were found, with PRCC and SFPQ being the most common partners.
  • A novel TFE3 fusion partner, GRIPAP1, was identified.

Conclusions:

  • The study identified GRIPAP1 as a new fusion partner in tRCC.
  • While the prognostic role of specific transcript types requires further investigation due to small sample size, tRCC can be aggressive.
  • A significant proportion of patients (19%) died from the disease, often presenting with lymph node involvement.
Keywords:
TFE3Xp11.2RNA sequencingtranslocation renal cell carcinoma

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