XL FOXO1 BA consists of a green-labeled probe hybridizing proximal to the FOXO1 gene region at 13q14.1 and an orange-labeled probe hybridizing distal to the FOXO1 gene region at 13q14.1.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

Rhabdomyosarcoma (RMS) is a relatively rare cancer type but it is the most common soft tissue sarcoma in children and adolescents. The histopathological classification includes several subtypes: embryonal rhabdomyosarcoma (ERMS) and alveolar rhabdomyosarcoma (ARMS) are the most common variants, in the order of their occurrence. ARMS is associated with a worse outcome and is characterized by the two reciprocal translocations t(2;13)(q35;q14) and t(1;13) (p36;q14), affecting the FOXO1 gene region and PAX3 or PAX7 respectively, in about 80% of cases. The result is an in-frame fusion of the PAX DNA binding domain with the transcriptional active domain of FOXO1 generating a highly potent chimeric activator for PAX target genes. Patients harboring FOXO1-PAX3/7 fusions have an inferior event-free survival compared to patients without translocation, suggesting that the molecular status in RMS provides valuable prognostic information.

Clinical Applications

• Solid Tumors (Solid Tumors)

XL FOXO1 hybridized to lymphocytes. Two normal interphases are shown.

• McManus et al (1996) J Pathol 178:410–414
• Barr (2001) Oncogene 20:5736-5746
• Skapek et al (2013) Pediatr Blood Cancer 60:1411-1417

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.