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Test ID: SS18F Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue

Useful For

Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.

 

Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

SS18, Synovial Sarcoma, FISH, Ts

Specimen Type

Tissue


Advisory Information


This test does not include a pathology consultation. If a pathology consultation is desired, order PATHC / Pathology Consultation.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


A reason for referral and pathology report are required in order for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.

 

Acceptable: Slides

Collection Instructions: Four consecutive, unstained, 5-micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.


Specimen Minimum Volume

Two consecutive, unstained, 5-micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide

Specimen Stability Information

Specimen Type Temperature Time Special Container
Tissue Ambient (preferred)
  Refrigerated 

Clinical Information

Synovial sarcoma (SS) is a malignant soft tissue tumor that predominantly occurs in the lower limbs of children and young adults. This tumor accounts for approximately 5% to 10% of soft tissue tumors, has a poor prognosis, and may occur in other areas of the body such as the head and neck, heart, abdominal wall, mediastinum, and lung, in addition to the extremities. Histologically, SS is grouped either into the monophasic subtype consisting of mostly spindle cells or the biphasic subtype consisting of epithelial and spindle cells. Depending on the site of origin, the differential diagnosis of SS can include mesothelioma, fibrosarcoma, solitary fibrous tumor, leiomyosarcoma, malignant peripheral nerve sheath tumors, epithelioid sarcoma, and clear cell sarcoma. In addition, when the SS is poorly differentiated, the differential diagnosis broadens to include the small round-blue cell tumors (Ewing sarcoma, alveolar rhabdomyosarcoma, and neuroblastoma). Accurate diagnosis of SS is important for appropriate clinical management of patients. Although immunohistochemical markers can be helpful in the correct diagnosis of these various tumor types, recent molecular studies have shown the superior specificity of molecular makers in differentiating SS from other tumors.

 

A recurrent, tumor-specific translocation t(X;18)(p11.2;q11.2) is observed in approximately 90% of synovial sarcomas. A single gene, SS18 (SYT), has been implicated on 18q11.2, while 1 of 3 related genes, SSX1, SSX2, or infrequently SSX4, is usually involved on Xp11.2. The prevalence of SS18-SSX1 is about twice that of SS18-SSX2 in most studies. Detection of these transcripts is usually performed by reverse transcriptase-PCR (RT-PCR) (SYT / Synovial Sarcoma RT-PCR), which allows specific identification of SS18-SSX1 or SS18-SSX2. Identification of the SS18-SSX1 fusion is associated with an unfavorable outcome with significantly shorter overall survival when compared to the SS18-SSX2 fusion. Unfortunately, RT-PCR results may be equivocal or falsely negative due to many reasons such as when the available RNA is of poor quality or if a rare translocation partner is present. In these cases, FISH testing can be used to identify SS18 gene rearrangements in these tumors, which supports the diagnosis of SS.

Reference Values

An interpretive report will be provided.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for the SS18 (SYT) FISH probe.

 

A positive result suggests rearrangement of the SS18 (SYT) gene region at 18q11.2 and supports the diagnosis of synovial sarcoma (SS).

 

A negative result suggests no rearrangement of the SS18 (SYT) gene region at 18q11.2. However, this result does not exclude the diagnosis of SS.

Clinical Reference

1. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. Edited by CDM Fletcher, K Unni, F Mertens. IARC: Lyon 2002, pp 200-204

2. Sandberg AA, Bridge JA: Updates on the cytogenetics and tissue tumors. Synovial sarcoma. Cancer Genet Cytogenet 2002 Feb;133(1):1-23

3. Kokovic I, Bracko M, Golouh R, et al: Are there geographical chimeric transcripts in synovial sarcoma? Cancer Detect Prev 2004;28(4):294-301

4. dos Santos NR, de Bruijn DR, van Kessel AG: Molecular mechanisms underlying human synovial sarcoma development. Genes Chromosomes Cancer 2001 Jan;30(1):1-14

Day(s) and Time(s) Performed

Specimens are processed Monday through Sunday.

Results reported Monday through Friday 8 a.m.-5 p.m.

Analytic Time

7 days

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

88271x2, 88291 – DNA probe, each (first probe set), Interpretation and report

88271x2 – DNA probe, each; each additional probe set (if appropriate)

88271x1 – DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2 – DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3 – DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52 – Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274 – Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)     

88275 – Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SS18F SS18, Synovial Sarcoma, FISH, Ts In Process

 

Result ID Test Result Name Result LOINC Value
52131 Result Summary 50397-9
52133 Interpretation 69965-2
54582 Result 62356-1
CG742 Reason for Referral 42349-1
52134 Specimen 31208-2
52135 Source 31208-2
52136 Tissue ID 80398-1
52137 Method 49549-9
55024 Additional Information 48767-8
53833 Disclaimer 62364-5
52138 Released By 18771-6
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