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ETV6-NTRK3 in congenital mesoblastic nephroma: A report of the SIOP/GPOH nephroblastoma study

Christian Vokuhl1, Nasenien Nourkami-Tutdibi2, Rhoikos Furtwängler2

  • 1Kiel Pediatric Tumor Registry, Department of Pediatric Pathology, Christian-Albrechts-University Kiel, Kiel, Germany.

Pediatric Blood & Cancer
|December 30, 2017
PubMed
Abstract

Insights

Congenital mesoblastic nephroma (MN) subtype impacts prognosis. Cellular MNs with the ETV6-NTRK3 translocation show superior relapse-free survival compared to translocation-negative tumors.

Area of Science:

  • Pediatric Oncology
  • Molecular Pathology
  • Genetics

Background:

  • Congenital mesoblastic nephroma (MN) is a rare pediatric renal tumor.
  • Histologically, MN is classified into classical, cellular, and mixed types.
  • The ETV6-NTRK3 gene fusion is a frequent alteration in cellular MN.

Purpose of the Study:

  • To determine the translocation status in a large cohort of MN.
  • To correlate translocation status with MN subtype and patient outcomes.

Main Methods:

  • Analysis of clinical data from 111 MN patients.
  • Histological classification into classical (51%), cellular (31%), and mixed (18%) types.
  • Fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR) on 79 tumors.

Main Results:

  • All classical and mixed MN were translocation-negative.
  • The ETV6-NTRK3 translocation was detected in 58% of cellular MN.
  • Translocation-positive cellular MN demonstrated significantly superior 5-year relapse-free survival (100% vs. 73%).

Conclusions:

  • The ETV6-NTRK3 fusion is characteristic of cellular MN.
  • Translocation status is a key prognostic factor in cellular MN.
  • This finding aids in risk stratification and personalized treatment of pediatric MN.
Keywords:
GPOHSIOPcongenital mesoblastic nephromaoncogenepediatric kidney cancertranslocation

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