FOXO1 (FKHR) (13q14) gene rearrangement

CMDL > FOXO1 (FKHR) (13q14) gene rearrangement
Intended Use: FOXO1 (FKHR) (13q14) gene rearrangement
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.
Specimen Required

Paraffin-embed tissue (3–4-micron thick sections in positively charged/silanized slides).

Patient Preparation
  • Sample collection: Tumor tissue (FFPE tissue block). Submit block/slides along with the corresponding Histopathology Report.
  • Specimen preparation: Formalin fix (10 percent neutral buffered formalin) and paraffin-embed tissue (3–4-micron thick sections). Fixative duration: 6-48 hours.
  • Storage/Transport Temperature: Room temperature. Protect paraffin block from excessive heat. Also acceptable: Refrigerated. Ship in cooled container during summer months.
  • Unacceptable Conditions: Paraffin block with no tumor tissue remaining. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens. Specimens with fixation delayed for more than one hour. Tissue fixed or less than 6 hours of greater than 48 hours.
  • Remarks
  • Stability: Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Methodology

Fluorescence in situ Hybridization (FISH)

Sample received to report Turnaround time (TAT)

5 working days

Reference Interval

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Interpretive Data

The most recent WHO classification of Tumours of Hematopoietic and Lymphoid Tissues (Revised 5th edition) is used for interpretation criteria for evaluating FOXO1 (FKHR) (13q14) gene rearrangement status.

Resources

Sample Reports

  • Enhanced Report
  • See report