Intended Use
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.
Patient Preparation
- Sample collection: Tumour Tissue Block
- Specimen preparation: Do not freeze or expose to extreme temperatures.
- FFPE Tissue Block: Formalin fix (10 percent neutral buffered formalin) and paraffin-embed tissue (3–4-micron thick sections in positively charged/silanized slides). Fixative duration: 6-48 hours.
- Storage/Transport Temperature: Room temperature.
- 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)
3 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 evaluation.
Resources
- Additional Technical Information
- Test Request Form
Sample Reports
- Enhanced Report
- See report