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Test 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:

-Hematopathology/Cytogenetics Test Request (T726)

-Children's Oncology Group Test Request (T829)

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.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

B-Lymphoblastic Leuk/Lymph, FISH,Ts

Specimen Type

Tissue

Specimen Minimum Volume

Slides: 1 Hematoxylin and eosin stained and 15 unstained

Specimen Stability Information

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

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 reference range for any given probe set.

 

A positive result is not diagnostic for B-cell lymphoblastic lymphoma but may provide relevant prognostic information.

 

The absence of an abnormal clone does not rule out the presence of an acute B-cell lymphoblastic leukemia/lymphoma or another neoplastic disorder.

Clinical Reference

1. Moorman AV, Harrison CJ, Buck GA, et al.: Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL): analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. Blood. 2007. Apr 15;109(8):3189-3197

2. Moorman AV.: The clinical relevance of chromosomal and genetic abnormalities in B-cell precursor acute lymphoblastic leukemia. Blood Rev. 2012 May;26(3):123-135

3. Roberts KG, Li Y, Payne-Turner D, et al.: Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med. 2014 Sept 11;371(11):1005-1015

4. Mullighan CG.: The genomic landscape of acute lymphoblastic leukemia in children and young adults. Hematology Am Soc Hematol Educ Program. 2014 Dec 5;2014(1):174-180

5. Arber DA, Orazi A, Hasserjian R, et al.: The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-2405

6. Swerdlow SH, Campo E, Harris NL, et al, eds.: WHO Classification of Tumours. Vol 2.WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. WHO Classification of Tumours. Vol 2.

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

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)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BLBLF B-Lymphoblastic Leuk/Lymph, FISH,Ts 102100-5

 

Result ID Test Result Name Result LOINC Value
609452 Result Summary 50397-9
609453 Interpretation 69965-2
609454 Result Table 93356-4
609455 Result 62356-1
GC057 Reason for Referral 42349-1
609456 Specimen 31208-2
609457 Source 31208-2
609458 Tissue ID 80398-1
609459 Method 85069-3
609460 Additional Information 48767-8
609461 Disclaimer 62364-5
609462 Released By 18771-6