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Image Description

Alveolar rhabdomyosarcoma (ARMS) shows distinctive cytogenetic and molecular genetic abnormalities. About 80% of cases are defined by tumor-specific reciprocal t(2;13) or t(1;13) translocations, that result in fusion of the N-terminus of PAX3 or PAX7 to the C-terminus of FOXO1 gene. These molecular abnormalities can be detected by breakapart FISH or by RT-PCR methods.

FOXO1 breakapart FISH probe: The FOXO1 dual color breakapart probe (by Oxford Gene Technology) consists of two probes labeled in green, situated proximal (centromeric side) to the FOXO1 gene and four probes labeled in red distal (telomeric side) to the FOXO1 gene. The breakapart probe design allows detection of FOXO1 gene rearrangements, regardless of the partner gene involved. See next slide for interpretation of results.

Image courtesy of: Oxford Gene Technology; used with permission.

Image 59 of 95