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

Lovf, Marthe; Thomassen, Gard O. S.; Mertens, Fredrik LU ; Cerveira, Nuno; Teixeira, Manuel R.; Lothe, Ragnhild A. and Skotheim, Rolf I. (2013) In PLoS ONE 8(8).
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
PLoS ONE
volume
8
issue
8
publisher
Public Library of Science
external identifiers
  • wos:000323115800010
  • scopus:84881504672
ISSN
1932-6203
DOI
10.1371/journal.pone.0070649
language
English
LU publication?
yes
id
ec7f1b9e-fa0f-4746-8b9e-5ec16f9edc4b (old id 4025888)
date added to LUP
2013-10-01 15:11:50
date last changed
2019-08-07 02:04:23
@article{ec7f1b9e-fa0f-4746-8b9e-5ec16f9edc4b,
  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.},
  articleno    = {e70649},
  author       = {Lovf, Marthe and Thomassen, Gard O. S. and Mertens, Fredrik and Cerveira, Nuno and Teixeira, Manuel R. and Lothe, Ragnhild A. and Skotheim, Rolf I.},
  issn         = {1932-6203},
  language     = {eng},
  number       = {8},
  publisher    = {Public Library of Science},
  series       = {PLoS ONE},
  title        = {Assessment of Fusion Gene Status in Sarcomas Using a Custom Made Fusion Gene Microarray},
  url          = {http://dx.doi.org/10.1371/journal.pone.0070649},
  volume       = {8},
  year         = {2013},
}