Detection of myxoid liposarcoma-associated FUS–DDIT3 rearrangement variants including a newly identified breakpoint using an optimized RT-PCR assay View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-10

AUTHORS

Martin P Powers, Wei-Lien Wang, Vivian S Hernandez, Kayuri S Patel, Dina C Lev, Alexander J Lazar, Dolores H López-Terrada

ABSTRACT

Myxoid/round cell liposarcoma is characterized by the recurrent translocations t(12;16)(q13;p11) and, less commonly, t(12;22)(q13;q12), which fuse FUS or EWSR1, respectively, to DDIT3 on chromosome 12. Although a number of different variant breakpoints have been described, greater than 90% of all cases have one of the three different FUS-DDIT3 fusions, which may have clinical significance. To identify the individual breakpoints, a sequence-specific assay such as reverse transcription-PCR (RT-PCR) is needed. In this study, we optimized primer design to develop an RT-PCR assay for the detection of the most common translocations in formalin-fixed paraffin-embedded tissue specimens. We compared our assay with primers previously published for testing formalin-fixed paraffin-embedded specimens and achieved the most consistent results with our primers. We obtained RNA from 32 MLS cases, of which 27 carried one of the three common FUS-DDIT3 chimeric transcript types. Four of the negative cases were from very small biopsies with very low RNA concentration. One case was consistently negative by RT-PCR, but showed a FUS rearrangement by fluorescent in situ hybridization, suggesting that it may harbor one of the rarer FUS-DDIT3 chimeric types. In addition to the common fusions, our assay also identified a novel FUS-DDIT3 fusion between exon 9 of FUS and exon 3 of DDIT3 in one of the cases. More... »

PAGES

1307

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/modpathol.2010.118

DOI

http://dx.doi.org/10.1038/modpathol.2010.118

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029573652

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20581806


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