Continued">Continued">Continued">Alveolar rhabdomyosarcoma fusion panel – Children Cancer Hospital Egypt 57357
  • 19057

Alveolar rhabdomyosarcoma fusion panel

Alveolar rhabdomyosarcoma panel


  • Clinical Implications
    • Diagnosis of Alveolar Rhabdomyosarcoma

      • Alveolar Rhabdomyosarcoma: Cellular, malignant neoplasm composed of primitive, monomorphic round cells with evidence of skeletal muscle differentiation.

    • Two characteristic recurrent chromosomal translocations (80% of cases)
      • t(2;13)(q35;q14)
        • PAX3 on chromosome 2 and FOXO1 on chromosome 13
        • Most common translocation
      • t(1;13)(p36;q14)
        • PAX7 on chromosome 1 and FOXO1 on chromosome 13
  • Test Description

    • Real-time PCR for quantitative detection of PAX3/PAX7-FOXO1 gene rearrangement

  • Test approach

    • RNA was isolated and converted into cDNA. TaqMan Gene Expression Assays were used for quantitative polymerase chain reaction (qPCR) analysis of FOXO1-PAX3/7 fusion transcripts. Results interpreted according to the manufacture user guide.

  • Reporting name

    • Alveolar rhabdomyosarcoma fusion gene panel.

  • Test prerequisites (To ensure timely results)
    • Patient’s demographic data.
    • Clinicopathologic information:
      • Pathology report (final or preliminary) including anatomic location.
      • History of any given therapy for cancer and its date and relation to sample sent for molecular study (i.e. pre & post therapy). Therapy includes chemo and radiotherapy, hormonal or targeted therapy.
      • Any other relevant clinical data or history.
    • Type of sample:
      • Preferred: Formalin-fixed, paraffin-embedded (FFPE) tumor tissue block.
      • Acceptable:
        • Section in Eppendorf: Up to 4 sections, each with a thickness of up to 10 μm and a surface area of up to 250 mm2 + good H&E slide for assessment.
        • Five unstained slides + one good H&E slide.
      • Specimen Minimum Volume: Two 10-micron sections of FFPE.
  • Quality Control measures

    • All samples are subject to stringent quality control measures that include:

    • From your side:
      • Double check you are fulfilling all required data before sending your sample.
      • Check that your pathologist has selected the best block in terms of tumor cellularity, with least presence of necrosis and inflammation.
      • Pretherapy sample is preferred (if underwent any cancer therapy).
    • In our lab:
      • Assessment of tissue for adequacy & tumor cellularity before any molecular analysis.
      • Matching block ID with the report ID and demographic data.
      • Matching the submitted block with the data reported in the pathology report.
    • N.B.
      • If the sample sent in Eppendorf, it is your pathology lab’s responsibility to ensure the sample in Eppendorf is corresponding to the submitted H&E slide (we can’t prepare slide from Eppendorf).
      • This test does not include a pathology consultation.
  • Test Time

    • From 3 days to 5 working days.

  • Retention of the sample

    • Client provided paraffin blocks & unstained slides (if provided) will be returned after testing is complete.

  • Selected References
    1. Parham DM et al: Classification of rhabdomyosarcoma and its molecular Skapek SX et al: PAX-FOXO1 fusion status drives unfavorable outcome for children with rhabdomyosarcoma: a children’s oncology group report. Pediatr Blood Cancer. 60(9):1411-7, 2013
    2. Marshall AD et al: PAX3-FOXO1 and FGFR4 in alveolar rhabdomyosarcoma. Mol Carcinog. 51(10):807-15, 2012