Assessment of fusion gene status in sarcomas using a custom made fusion gene microarray

PLoS One. 2013 Aug 13;8(8):e70649. doi: 10.1371/journal.pone.0070649. eCollection 2013.

Abstract

Sarcomas are relatively rare malignancies and include a large number of histological subgroups. Based on morphology alone, the differential diagnoses of sarcoma subtypes can be challenging, but the identification of specific fusion genes aids correct diagnostication. The presence of individual fusion products are routinely investigated in Pathology labs. However, the methods used are time-consuming and based on prior knowledge about the expected fusion gene and often the most likely break-point. In this study, 16 sarcoma samples, representing seven different sarcoma subtypes with known fusion gene status from a diagnostic setting, were investigated using a fusion gene microarray. The microarray was designed to detect all possible exon-exon breakpoints between all known fusion genes in a single analysis. An automated scoring of the microarray data from the 38 known sarcoma-related fusion genes identified the correct fusion gene among the top-three hits in 11 of the samples. The analytical sensitivity may be further optimised, but we conclude that a sarcoma-fusion gene microarray is suitable as a time-saving screening tool to identify the majority of the correct fusion genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cluster Analysis
  • Gene Expression Profiling*
  • Humans
  • Oncogene Proteins, Fusion / genetics*
  • Sarcoma / diagnosis
  • Sarcoma / genetics*

Substances

  • Oncogene Proteins, Fusion

Grants and funding

ML is supported as a PhD student by Molecular Life Science, University of Oslo and the study is supported by the Norwegian Cancer Society (PR-2006-0442, RAL; PR-2007-0166, RIS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.