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HelpTest ID: 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 | |||
Clinical Information
In the United States, the incidence of B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is roughly 6000 new cases per year, or approximately 1 in 50,000. B-ALL/LBL accounts for approximately 70% of all childhood leukemia cases (ages 0 to 19 years), making it the most common type of childhood cancer. It has a peak incidence at 2 to 5 years of age. This incidence decreases with age before increasing again at around 50 years of age.
Per National Comprehensive Cancer Network guidelines, a combination of cytogenetic and FISH testing is currently recommended in all pediatric and adult patients with B-ALL/lymphoblastic lymphoma (LBL). Additional cytogenetic techniques, such as chromosomal microarray (CMAH / Chromosomal Microarray, Hematologic Disorders, Varies), may be helpful in resolving either questions related to ploidy (hyperdiploid clone vs doubled hypodiploid clone) or certain clonal structural rearrangements, such as the presence or absence of intra-chromosomal amplification of chromosome 21 (iAMP21). A summary of the characteristic chromosome abnormalities identified in B-ALL is listed in the following table.
Table. Common Chromosome Abnormalities in B-cell Acute Lymphoblastic Leukemia
|
Leukemia type |
Cytogenetic change |
Typical demographic |
Risk category |
|
B-acute lymphoblastic leukemia
|
t(12;21)(p13;q22), ETV6::RUNX1 |
Pediatric |
Favorable |
|
Hyperdiploidy |
Pediatric |
Favorable |
|
|
t(1;19)(q23;p13.3), PBX1::TCF3 |
Pediatric |
Intermediate to favorable |
|
|
t(9;22)(q34;q11.2), BCR::ABL1 |
All ages |
Unfavorable |
|
|
iAMP21, RUNX1 |
Pediatric |
Unfavorable |
|
|
del(9p), CDKN2A |
All ages |
Unknown |
|
|
t(11q23;var), MLL rearrangement |
All ages |
Unfavorable |
|
|
t(4;11)(q21;q23), AFF1::MLL |
All ages |
Unfavorable |
|
|
t(6;11)(q27;q23), MLLT4(AFDN)::MLL |
All ages |
Unfavorable |
|
|
t(9;11)(p22;q23), MLLT3::MLL |
All ages |
Unfavorable |
|
|
t(10;11)(p12;q23), MLLT10::MLL |
All ages |
Unfavorable |
|
|
t(11;19)(q23;p13.1), MLL::ELL |
All ages |
Unfavorable |
|
|
t(11;19)(q23;p13.3), MLL::MLLT1 |
All ages |
Unfavorable |
|
|
t(14q32;var), IGH rearrangement |
All ages |
Variable |
|
|
t(X;14)(p22;q32)/t(Y;14)(p11;q32), CRLF2::IGH |
Adolescent/ young adult |
Unfavorable |
|
|
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement |
All ages |
Unfavorable |
|
|
t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement |
All ages |
Unfavorable |
|
|
-17/17p-, TP53 |
All ages |
Unfavorable |
|
|
t(8q24.2;var), MYC rearrangement |
Pediatric/ adolescent/ young adult |
||
|
Complex karyotype (≥4 abnormalities) |
Adult |
Unfavorable |
|
|
Low hypodiploidy/near triploidy |
Adult |
Unfavorable |
|
|
Near-haploid/hypodiploid |
All ages |
Unfavorable |
|
|
del(7p) IKZF1 |
All ages |
Unfavorable in absence of ERG deletion |
|
|
Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) |
t(1q25;var), ABL2 |
Pediatric/ adolescent/ young adult |
Unfavorable |
|
t(5q32;var), PDGFRB |
|||
|
t(9p24.1;var), JAK2 |
|||
|
t(9q34;var), ABL1 |
|||
|
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 |
|||
|
t(Xp22.33;var) or t(Yp11.32;var), P2RY8 |
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 daysTest 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 | In Process |
| 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 |
mml-lymphoma