Assessment of Fusion Gene Status in Sarcomas Using a Custom Made Fusion Gene Microarray

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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.

Detaljer

Författare
  • Marthe Lovf
  • Gard O. S. Thomassen
  • Fredrik Mertens
  • Nuno Cerveira
  • Manuel R. Teixeira
  • Ragnhild A. Lothe
  • Rolf I. Skotheim
Enheter & grupper
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik
Originalspråkengelska
Artikelnummere70649
TidskriftPLoS ONE
Volym8
Utgivningsnummer8
StatusPublished - 2013
PublikationskategoriForskning
Peer review utfördJa

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