Also known as: FKHR FISH« Back to test list
The FOXO1 (also known as FKHR) locus is rearranged in around 80% of cases of Alveolar Rhabdomyosarcoma (RMS). 60% have a PAX3-FOXO1 fusion, and 20% a PAX7-FOXO1 fusion. This test has diagnostic implications.
Diagnosis of RMS is often problematic histologically, and positivity for FOXO1 is a useful diagnostic aid.
This is an assay for non-heritable mutations. It does not raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.
Fluorescent in situ hybridisation (FISH) analysis, using probes to detect gene fusions involving the FOXO1 gene.
This test is usually requested by an oncologist.
Formalin fixed, paraffin-embedded tissue (FFPE) – 10 sections of 4 uM thickness, dried overnight at 37 degrees onto charged/coated slides.