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FISH, Synovial Sarcoma, SYT, 18q11.2 Rearrangement
Test Code19773
CPT Codes
88275, 88271 (x2)
Includes
Note: If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
Preferred Specimen
3 mL bone marrow submitted in culture transport media or
Formalin-fixed paraffin-embedded tissue block or
5x5mm fresh biopsy collected in sterile leak-proof container with culture medium and antibiotics
Formalin-fixed paraffin-embedded tissue block or
5x5mm fresh biopsy collected in sterile leak-proof container with culture medium and antibiotics
Minimum Volume
1 mL bone marrow
Other Acceptable Specimens
Bone marrow collected in: sodium heparin (green-top) tube, sodium heparin (royal blue-top) tube, or sodium heparin lead-free (tan-top) tube
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and transplant history should be provided with test order.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Refrigerated: See instructions
Frozen: See instructions
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Sun-Fri; Report available: 5 days
Reference Range
See Laboratory Report
Clinical Significance
This fluorescence in situ hybridization (FISH) assay detects the chromosome rearrangements that involve the SS18 (SYT) gene on chromosome 18q11.2. The results of this test may aid in the diagnosis of synovial sarcoma.
Synovial sarcoma is a soft tissue sarcoma that mainly occurs in the extremities. A histologic and immunohistochemical diagnosis can be difficult because synovial sarcoma often resembles other spindle-cell sarcomas. The majority of the patients with synovial sarcoma have SS18 gene rearrangements, which result in the t(X;18)(p11;q11) with SS18/SSX1 gene fusion, t(X;18)(p11;q11) with SS18/SSX2 gene fusion, and t(X;18)(p11;q11) with SS18:SSX4 gene fusion [1,2].The SS18/SSX1 fusion gene occurs in two-thirds of the patients with synovial sarcoma; the SS18/SSX2 fusion gene occurs in one-third of the patients; the SS18/SSX4 fusion gene rarely occurs [2]. Another rare fusion gene, SS18L1/SSX1, is a result of the t(X;20) translocation and cannot be detected by this FISH test [3].
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Soft tissue sarcoma. Version 2.2023. Updated April 25, 2023. https://www.nccn.org
2. Fletcher CDM, et al. Soft tissue tumours. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. 5th ed. IARC Press; 2020:chap 2. Accessed July 18, 2023. https://tumourclassification.iarc.who.int
3. Storlazzi CT, et al. Genes Chromosomes Cancer. 2003;37(2):195-200.
Synovial sarcoma is a soft tissue sarcoma that mainly occurs in the extremities. A histologic and immunohistochemical diagnosis can be difficult because synovial sarcoma often resembles other spindle-cell sarcomas. The majority of the patients with synovial sarcoma have SS18 gene rearrangements, which result in the t(X;18)(p11;q11) with SS18/SSX1 gene fusion, t(X;18)(p11;q11) with SS18/SSX2 gene fusion, and t(X;18)(p11;q11) with SS18:SSX4 gene fusion [1,2].The SS18/SSX1 fusion gene occurs in two-thirds of the patients with synovial sarcoma; the SS18/SSX2 fusion gene occurs in one-third of the patients; the SS18/SSX4 fusion gene rarely occurs [2]. Another rare fusion gene, SS18L1/SSX1, is a result of the t(X;20) translocation and cannot be detected by this FISH test [3].
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Soft tissue sarcoma. Version 2.2023. Updated April 25, 2023. https://www.nccn.org
2. Fletcher CDM, et al. Soft tissue tumours. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. 5th ed. IARC Press; 2020:chap 2. Accessed July 18, 2023. https://tumourclassification.iarc.who.int
3. Storlazzi CT, et al. Genes Chromosomes Cancer. 2003;37(2):195-200.
