| Autor: |
Powers, Martin P, Wang, Wei-Lien, Hernandez, Vivian S, Patel, Kayuri S, Lev, Dina C, Lazar, Alexander J, López-Terrada, Dolores H |
| Zdroj: |
Modern Pathology; October 2010, Vol. 23 Issue: 10 p1307-1315, 9p |
| Abstrakt: |
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 FUSor EWSR1, respectively, to DDIT3on 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–DDIT3fusions, 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–DDIT3chimeric 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 FUSrearrangement by fluorescent in situhybridization, suggesting that it may harbor one of the rarer FUS–DDIT3chimeric types. In addition to the common fusions, our assay also identified a novel FUS–DDIT3fusion between exon 9 of FUSand exon 3 of DDIT3in one of the cases. |
| Databáze: |
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