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HelpOrder Code BLBLF B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue
Ordering Guidance
This test does not include a pathology consultation. If a pathology consultation is requested, order PATHC / Pathology Consultation, and appropriate testing will be added at the discretion of the pathologist and performed at an additional charge.
For testing non-paraffin bone marrow or blood specimens from patients with B-cell acute lymphoblastic leukemia/lymphoma, order either BALPF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies or BALAF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies, depending on the patient's age. If a non-paraffin embedded bone marrow or blood specimen is received for this test, this test will be canceled, and either BALPF or BALAF, depending on patient's age, will be added and performed as the appropriate test.
For patients with B-cell lymphoma, order BLYM / B-Cell Lymphoma, FISH, Tissue.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A pathology report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.
2. The following information must be included in the report provided.??
1. Patient name?
2. Block number - must be on all blocks, slides, and paperwork??
3. Date of collection?
4. Tissue source?
3. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
Submit only 1 of the following specimens:
Preferred
Specimen Type: 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.
Additional Information:
1. Paraffin-embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc).
2. Bone specimens that have been decalcified will be attempted for testing, but the success rate is approximately 50%.
Acceptable
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin stained and 20 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 20 consecutive unstained, positively charged, unbaked slides with 5-micron thick sections of the tumor tissue.
Forms
If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
Useful For
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded specimens
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | 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 includes a charge for the probe application, analysis, and professional interpretation of results for one probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. No analysis charges will be incurred if an insufficient number of representative cells are available for analysis.
This FISH test allows different combinations of probes to be utilized based on the patient's age and clinical question, including the standard (diagnostic) B-cell lymphoblastic lymphoma (B-LBL) FISH panel and the individual B-LBL FISH probes (per client request).
The FISH initial (diagnostic) panel for patients aged 30 years or younger includes testing for the following abnormalities using the FISH probes listed:
+9/9p-, CDKN2A/D9Z1
t(9;22)(q34;q11.2), BCR/ABL1
11q23 rearrangement, MLL (KMT2A) break-apart
-17/17p-, TP53/D17Z1
t(1;19)(q23;p13), PBX1/TCF3
Hyperdiploidy, +4,+10,+17, D4Z1/D10Z1/D17Z1
t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21
14q32 rearrangement, IGH break-apart
8q24.2 rearrangement, MYC break-apart
If results for the initial panel are negative or demonstrate nonclassical abnormalities, the Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) panel will be performed as a secondary panel. The Ph-like ALL panel includes testing for the following kinase activating chromosome abnormalities, using the FISH probes listed below, as well as IKZF1 deletion, which often accompanies Ph-like ALL.
1q25 rearrangement, ABL2 break-apart
5q32 rearrangement, PDGFRB break-apart
9p24.1 rearrangement, JAK2 break-apart
9q34 rearrangement, ABL1 break-apart
The FISH initial (diagnostic) panel for patients aged 31 years or older includes testing with the following FISH probe: t(9;22)(q34;q11.2), BCR/ABL1
If BCR::ABL1 fusion is not observed, the Ph-like ALL panel will be performed as a secondary panel. The Ph-like ALL panel includes testing for the following kinase activating chromosome abnormalities, using the FISH probes listed below.
1q25 rearrangement, ABL2 break-apart
5q32 rearrangement, PDGFRB break-apart
9p24.1 rearrangement, JAK2 break-apart
9q34 rearrangement, ABL1 break-apart
Finally, if results for the Ph-like panel are negative or demonstrate nonclassical abnormalities, the following probe sets will be performed as a tertiary panel:
t(1;19)(q23;p13), PBX1/TCF3 fusion
Hyperdiploidy, +4,+10,+17, D4Z1/D10Z1/D17Z1
t(12;21)(p13;q22) or iAMP21, ETV6/RUNX1
14q32 rearrangement, IGH break-apart
11q23 rearrangement, MLL (KMT2A) break-apart
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.
When an MLL(KMT2A) rearrangement is identified, appropriate reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1::MLL(KMT2A), t(6;11)(q27;q23) MLLT4(AFDN)::MLL(KMT2A), t(9;11)(p22;q23) MLLT3::MLL(KM2TA), t(10;11)(p12;q23) MLLT10::MLL(KMT2A), t(11;19)(q23;p13.3) MLL(KMT2A)::MLLT1, or t(11;19)(q23;p13.1) MLL(KMT2A)::ELL. In the event an 11q23 translocation is (or has been) identified by chromosome or FISH analysis, only the targeted MLL(KMT2A) reflex probe will be performed if applicable.
In the absence of BCR::ABL1 fusion, when an extra ABL1 signal is identified, reflex testing may be performed at the laboratory's discretion using the ABL1 break-apart probe set to evaluate for the presence of a potential variant translocation involving ABL1, t(9;var)(q34;?). Laboratory discretion may be influenced by available karyotype or other FISH results.
In the absence of ETV6::RUNX1 fusion, when an extra ETV6 signal is identified, reflex testing may be performed at the laboratory's discretion using the ETV6 break-apart probe set to evaluate for the presence or absence of a potential variant translocation involving ETV6, t(12;var)(p13;?). Laboratory discretion may be influenced by available karyotype or other FISH results.
If a MYC rearrangement is identified, both the BCL2 and BCL6 break-apart probe sets will be performed.
For more information see B-Lymphoblastic Leukemia/Lymphoma Algorithm.
Special Instructions
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
B-Lymphoblastic Leuk/Lymph, FISH,TsSpecimen Type
TissueSpecimen Minimum Volume
Slides: 1 Hematoxylin and eosin stained and 15 unstained
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.
Method Description
This test is performed using commercially available and laboratory-developed probes. Deletion of the CDKN2A locus on chromosome 9, the TP53 locus on chromosome 17, and gain of chromosomes 4, 10, and 17 are detected using enumeration strategy probes. Rearrangements involving ABL2, PDGFRB, MYC, JAK2, ABL1, MLL, ETV6, and IGH are detected using a dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion fluorescence in situ hybridization strategy probe sets are used to detect t(9;22), t(12;21), t(1;19), and in reflex testing when rearrangements of the MLL gene are detected. If separation of the MYC gene is identified, break-apart BCL2 and BCL6 will be evaluated using a dual-color BAP strategy probe.
Paraffin-embedded tissue samples 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 engraving tool on the back of the unstained slide to be assayed. The probe set is hybridized to the appropriate target areas, and 2 technologists each independently analyze 50 interphase nuclei (100 total) with the results expressed as the percent of abnormal nuclei.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
88271 x 2, 88291-DNA probe, each (first probe set), interpretation and report
88271 x 2-DNA probe, each; each additional probe set (if appropriate)
88271-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271 x 3-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)