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Test Code BALPF B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies


Ordering Guidance


This test is only performed on specimens from patients with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) who are 30 years of age or younger.

 

This test is intended to be ordered when the entire B-ALL fluorescence in situ hybridization (FISH) panel is needed for a pediatric patient.

 

This test should NOT be used to screen for residual B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL).

 

If using FISH to monitor B-ALL patients, it is recommended to use individual (or limited) FISH probe sets.

 

If limited B-cell ALL FISH probes are preferred, order BALMF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies, and request specific probes for targeted abnormalities.

 

If the patient clinically relapses, a conventional chromosome study may be useful to identify cytogenetic changes in the neoplastic clone or the possible emergence of a new therapy-related myeloid clone.

 

If this test is ordered on a patient 31 years of age or older, this test will be canceled and automatically reordered by the laboratory as BALAF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Adult, FISH, Varies.

 

If this test is ordered and the laboratory is informed that the patient is 30 years of age or younger AND is on a Children's Oncology Group protocol, this test will be canceled and automatically reordered by the laboratory as COGBF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Pediatric, Varies.

 

If either (or both) AMLPF / Acute Myeloid Leukemia (AML), Specified FISH, Varies; or TALPF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies, is (are) ordered concurrently with this test, the laboratory may cancel this test and automatically reorder as BALMF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies with the following FISH probes: ETV6/RUNX1, PBX1/TCF3, 4/10/17, break-apart IGH, break-apart CRLF2, break-apart P2RY8, break-apart MYC, break-apart ABL2, break-apart PDGFRB, break-apart JAK2, break-apart ABL1, and IKZF1/cep7. If an abnormality is identified that would result in reflex testing in BALPF, the same reflex testing will be performed in the BALMF. This cancellation is necessary to avoid duplicate testing. Probes for CDKN2A/D9Z1, ABL1/BCR, break-apart MLL, TP53/D17Z1 will still be performed as part of the pediatric T-ALL FISH panel. 

 

If PHLDF / Philadelphia Chromosome-like Acute Lymphoblastic Leukemia (Ph-like ALL), Diagnostic FISH, Varies, is ordered concurrently with this test, PHLDF testing will be canceled. This cancellation is necessary to avoid duplicate testing as PHLDF probes are included within this test, when appropriate.

 

For patients with B-cell lymphoma, order BLPMF / B-Cell Lymphoma, Specified FISH, Varies.

 

For testing paraffin-embedded tissue samples from patients with B-cell acute lymphoblastic lymphoma, order BLBLF / B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue. If a paraffin-embedded tissue sample is submitted for this test, it will be canceled and BLBLF will be added and performed as the appropriate test.



Additional Testing Requirements


At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and this test should both be performed. If there is limited specimen available, this test only will be performed.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


1. A reason for testing and a flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided; however, appropriate testing and/or interpretation may be compromised or delayed in some instances. If not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

2. If the patient has received an opposite sex bone marrow transplant, note this information on the request.



Specimen Required


Submit only 1 of the following specimens:

 

Preferred

Specimen Type: Bone marrow

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 2 to 3 mL

Collection Instructions:

1. It is preferable to send the first aspirate from the bone marrow collection.

2. Invert several times to mix bone marrow.

3. Send bone marrow specimen in original tube. Do not aliquot.

 

Acceptable

Specimen Type: Whole blood

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.


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 pediatric patients

 

As an adjunct to conventional chromosome studies for pediatric patients with B-ALL/LBL

 

Evaluating specimens in which chromosome studies are unsuccessful

 

This test should not be used to screen for residual B-ALL/LBL.

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 11 probe sets (23 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

The initial (diagnostic) pediatric/young adult B-cell acute lymphoblastic leukemia (B-ALL) FISH panel 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 or +4,+10,+17, D4Z1/D10Z1/D17Z1

t(12;21)(p13;q22) or iAMP21, ETV6/RUNX1

14q32 rearrangement, IGH break-apart

t(Xp22.33;var) or t(Yp11.32;var),rearrangement, CRLF2 break-apart

t(Xp22.33;var) or t(Yp11.32;var) rearrangement, P2RY8 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

7p-, IKZF1/CEP7

 

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 analysis, only the targeted MLL(KMT2A) reflex probe will be performed if applicable. 

 

When an IGH or CRLF2 rearrangement is identified, appropriate reflex testing will be performed using the CRLF2/IGH probe set will be considered at the laboratory's discretion to identify a potential t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32) cryptic translocation. Laboratory discretion may be influenced by available karyotype or other FISH results.

 

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 or absence of a potential rearrangement 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 rearrangement 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

Pediatric ALL (B-cell), FISH

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 2 mL; Bone marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies 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.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe set.

 

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

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

88271 x 23, 88275 x 11, 88291 x 1-FISH Probe, Analysis, Interpretation; 11 probe sets

88271 x 2, 88275 x 1-FISH Probe, Analysis; each additional probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BALPF Pediatric ALL (B-cell), FISH 102099-9

 

Result ID Test Result Name Result LOINC Value
609548 Result Summary 50397-9
609549 Interpretation 69965-2
609550 Result Table 93356-4
609551 Result 62356-1
GC068 Reason for Referral 42349-1
GC069 Specimen 31208-2
609552 Source 31208-2
609553 Method 85069-3
609554 Additional Information 48767-8
609555 Disclaimer 62364-5
609556 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.