Continued">Continued">Continued">Synovial sarcoma fusion panel – Children Cancer Hospital Egypt 57357

Synovial sarcoma fusion panel

Synovial Sarcoma panel

  • Clinical Implications
    • Diagnosis of Synovial sarcoma
    • Synovial sarcoma: Malignant mesenchymal spindle cell neoplasm with variable epithelial differentiation, including gland formation, and characterized by specific chromosomal translocation t(X;18)(p11;q11).

    • Characteristic t(X;18)(p11;q11) in vast majority of tumors
      • One of SSX genes at Xp11 fuses to SS18 gene (formerly termed SYT) at 18q11
        • May involve SSX1 (most common), SSX2, or SSX4
        • SSX1 most common in biphasic SS
      • Distinctive translocation has not been recognized in other similar tumors

  • Test Description
  • Real-time PCR for quantitative detection of SS18-SSX1 & SS18-SSX2 rearrangement.

  • Test approach
  • RNA was isolated and converted into cDNA. TaqMan Gene Expression Assays were used for quantitative polymerase chain reaction (qPCR) analysis of SS18-SSX1/2 fusion transcripts. Results interpreted according to the manufacture user guide.

  • Reporting name
  • Synovial Sarcoma 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. Tamaki S et al: SS18-SSX, the Oncogenic Fusion Protein in Synovial Sarcoma, Is a Cellular Context-Dependent Epigenetic Modifier. PLoS One. 10(11):e0142991, 2015
    2. Coindre JM et al: Should molecular testing be required for diagnosing synovial sarcoma? a prospective study of 204 cases. Cancer. 98(12):2700-7, 2003
    3. Ladanyi M et al: Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients. Cancer Res. 62(1):135-40, 2002
    4. Pelmus M et al: Monophasic fibrous and poorly differentiated synovial sarcoma: immunohistochemical reassessment of 60 t(X;18)(SYT-SSX)-positive cases. Am J Surg Pathol. 26(11):1434-40, 2002