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ZytoDot 2C SPEC EWSR1 Break Apart Probe

Ref : C-3043-100 - Nº Test : 10 - Format : 0,1 ml
Manufacturer: ZytoVision
Description

Background

The ZytoDot ® 2C SPEC EWSR1 Break Apart Probe is designed to detect translocations involving the chromosomal region 22q12 harboring the EWSR1 (Ewing sarcoma breakpoint region 1) gene (a.k.a. EWS).
Translocations involving the chromosomal region 22q12 are found in 90-95% of patients with Ewing sarcoma or peripheral primitive neuroectodermal tumors (PNET). Ewing sarcoma is the second most common, highly malignant bone tumor in children and young adults. The most frequent translocation involving the EWSR1 gene region is t(11;22)(q24;q12) juxtaposing the EWSR1 gene in 22q12 next to the FLI-1 (friend leukemia virus integration 1) locus in 11q24. FLI-1 is a member of the ETS family of transcription factors. Less frequently, EWSR1 can also be fused to ERG, a transcription factor closely related to FLI-1 but located in 21q22. For prognosis and appropriate treatment it is important to differentiate Ewing sarcoma/ PNET from classic neuroblastoma, Wilms tumor, and rhabdomyosarcoma.
In combination with the histopathological diagnosis, detection of EWSR1 rearrangements by using in situ Hybridization can be used to confirm the diagnosis of Ewing sarcoma/PNET.

 

References

Bridge RS, et al. (2006) Mod Pathol 19: 1-8.
Delattre O, et al. (1992) Nature 359: 162-5.
Lee J, et al. (2005) Cancer Genet Cytogenet 159: 177-80.
Romeo S & Dei Tos AP (2010) Virchows Arch 456: 219-34.
Sandberg AA & Bridge JA (2000) Cancer Genet Cytogenet 123: 1-26.
Zucman J, et al. (1993) EMBO J 12: 4481-7.

 

Probe Description

The ZytoDot ® 2C SPEC EWSR1 Break Apart Probe is a mixture of a Digoxigeninlabeled probe and a Dinitrophenyllabeled probe hybridizing to the 22q12 band. The DNP-labeled probe hybridizes proximal and extends inward intron 4 of the EWSR1 gene, the DIG-labeled probe hybridizes distal to that gene.

 

Results

In an interphase nucleus lacking a translocation involving the 22q12 band, using the ZytoDot ® 2C CISH Implementation Kit two red/green fusion signals are expected representing two normal (non-rearranged) 22q12 loci. A signal pattern consisting of one red/green fusion signal, one red signal, and a separate green signal indicates one normal 22q12 locus and one 22q12 locus affected by a 22q12 translocation.

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