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HelpTest Code MSTF Myeloid Sarcoma, FISH, Tissue
Reporting Name
Myeloid Sarcoma, FISH, TsUseful For
Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | 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 |
| _PBCT | Probe, +2 | 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 fluorescence in situ hybridization (FISH) test will be 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.
The test panel includes analysis for the disease-associated abnormalities using the probes listed below:
t(8;21), [M2], RUNX1T1/RUNX1
t(11q23;var), [M0-M7], MLL (KMT2A)
inv(16), [M4, Eos], MYH11/CBFB
t(15;17), [M3], PML/RARA
t(9;22), BCR/ABL1
If the patient is being treated for known abnormalities, indicate which probes should be used.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Method Name
Fluorescence In Situ Hybridization (FISH)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
TissueShipping 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
Specimen Type: Tissue
Preferred: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.
Acceptable: Slides
Collection Instructions: For each probe set ordered, 2 consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
Specimen Minimum Volume
For each probe set ordered, 2 consecutive, unstained, 5 micron-thick sections placed on positively charged slides.
Include 1 hematoxylin and eosin (H and E)-stained slide.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
CPT Code Information
88291
88271 x 2 (if appropriate)
88271 x 2 (if appropriate)
88271 (if appropriate)
88271 x 2 (if appropriate)
88271 x 3 (if appropriate)
88274 w/modifier 52 (if appropriate)
88274 (if appropriate)
88275 (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MSTF | Myeloid Sarcoma, FISH, Ts | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 52084 | Result Summary | 50397-9 |
| 52086 | Interpretation | 69965-2 |
| 52085 | Result Table | 93356-4 |
| 54576 | Result | 62356-1 |
| CG735 | Reason for Referral | 42349-1 |
| CG736 | Specimen | 31208-2 |
| 52087 | Source | 31208-2 |
| 52088 | Tissue ID | 80398-1 |
| 52089 | Method | 85069-3 |
| 55121 | Additional Information | 48767-8 |
| 53839 | Disclaimer | 62364-5 |
| 52090 | Released By | 18771-6 |
Clinical Information
Myeloid sarcomas are tumors made up of myeloblasts or immature myeloid cells that occur in extramedullary sites or in bone. They can occur concurrently with acute or chronic myeloid leukemia (AML or CML) or may precede the leukemia or other myeloid neoplasms. They may also be the initial manifestation of relapse of a previously treated primary AML in remission. Due to this extramedullary presentation, the bone marrow may have a low number of myeloblasts due to a lack of bone marrow involvement.
The most common abnormalities seen in myeloid sarcomas are fusion of RUNX1T1/RUNX1 (t[8;21][q22;q22]), PML/RARA (t[15;17][q24;q21]), BCR/ABL1 (t[9;22][q34;q11.2]), inversion of MYH11/CBFB (inv[16][q13.1q22]), and rearrangements of MLL (KMT2A; t[11q23;var]).
In general, AML patients with an inv(16), t(8;21), t(9;22), or t(15;17) have a favorable prognosis, while AML patients with a rearrangement of t(11q23) have an unfavorable prognosis. Thus, the detection of these abnormalities in an extramedullary presentation of AML can be prognostically important.
Interpretation
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for a given probe set.
A positive result supports the diagnosis of a myeloid sarcoma.
A negative result does not exclude the diagnosis of a myeloid sarcoma.
Supportive Data
Fluorescence in situ hybridization (FISH) analysis was performed on 25 noncancerous formalin-fixed paraffin-embedded tissue control specimens with the results used to generate the normal cutoff value for each probe set. A retrospective data review of FISH analysis performed on myeloid sarcomas identified 3 cases with RUNX1T1/RUNX1 fusion, 1 case with BCR/ABL1 fusion, 3 cases with rearrangement of MLL (KMT2A), 4 cases with PML/RARA fusion, and 4 cases with MYH11/CBFB fusion.
Clinical Reference
1. Slovak ML, Kopecky KJ, Cassileth PA, et al: Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study. Blood. 2000;96:4075-4083
2. Swerdlow SH, Campo E, Harris NL, et al: WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. International Agency for Research on Cancer; 2008:140-141
3. Grimwade D, Hills RK, Moorman AV, et al: Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116:354-365
Method Description
This test is performed using a commercially available MLL (KMT2A) dual-color break-apart strategy probe (BAP), a laboratory developed MYH11/CBFB dual-color, dual-fusion (D-FISH) strategy probe, and commercially available RUNX1T1/RUNX1, BCR/ABL1, and PML/RARA D-FISH strategy probes. Formalin-fixed paraffin-embedded tissues are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. The probe is hybridized to the appropriate target area and 2 technologists each analyze 50 interphase nuclei (100 total for each probe set) with the results expressed as the percent of abnormal nuclei.(Unpublished Mayo method)
Report Available
7 to 10 daysSpecimen Retention Time
Slides and H and E used for analysis are retained by the laboratory in accordance to CAP and NYS requirements. Client provided paraffin blocks and extra unstained slides (if provided) will be returned after testing is complete.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 US Food and Drug Administration.Secondary ID
35844Forms
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Cautions
Paraffin-embedded tissues that have been decalcified may not be successful for fluorescence in situ hybridization (FISH) analysis. FISH studies will be attempted if sufficient tumor is present for analysis. However, if no FISH signals are observed post-hybridization, the case will be released indicating a lack of FISH results.