Test Id : BALFP
Pediatric B-Lymphoblastic Leukemia/Lymphoma Panel, FISH, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and BCR::ABL1-like B-ALL in pediatric/young adult patients using a laboratory-designated probe set algorithm
As an adjunct to conventional chromosome studies in pediatric/young adult patients with B-ALL
Evaluating specimens in which chromosome studies are unsuccessful
This test should not be used to screen for residual B-ALL/LBL.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes a charge for the probe application, analysis, and professional interpretation of results for 9 probe sets (19 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets 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.
This test is performed as panel testing only using the following analysis algorithm.
The diagnostic pediatric/young adult B-lymphoblastic leukemia (B-ALL) FISH panel includes testing for the following abnormalities using the FISH probes listed:
CRLF2 (Xp22.33) or (Yp11.32) rearrangement, CRLF2 break-apart probe set
t(1;19)(q23;p13) or TCF3::PBX1 fusion, PBX1/TCF3 probe set
Hyperdiploidy or +4,+10,+17, D4Z1/D10Z1/D17Z1 probe set
t(8;14)(q24.21;q32) or IGH::MYC fusion, MYC/IGH probe set
t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set
t(9;22)(q34;q11.2) or BCR::ABL1 fusion, ABL1/BCR probe set
t(11q23;var) or KMT2A rearrangement, KMT2A break-apart probe set
t(12;21)(p13;q22) or ETV6::RUNX1 fusion or iAMP21, ETV6/RUNX1 probe set
t(14q32;var) or IGH rearrangement, IGH break-apart probe set
If results for the initial panel are negative or demonstrate nonclassical abnormalities, the B-lymphoblastic leukemia/lymphoma with BCR::ABL1-like features panel will be performed as a secondary panel. This panel includes testing for the following kinase activating chromosome abnormalities, using the FISH probes listed below, as well as IKZF1 deletion, which often accompanies BCR::ABL1-like ALL.
t(1q25;var) or ABL2 rearrangement, ABL2 break-apart probe set
t(5q32;var) or PDGFRB rearrangement, PDGFRB break-apart probe set
t(9p24.1;var) or JAK2 rearrangement, JAK2 break-apart probe set
t(9q34;var) or ABL1 rearrangement, ABL1 break-apart probe set
7p- or IKZF1 deletion, IKZF1/CEP7 probe set
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes used will have the results included within the final report and will be performed at an additional charge. In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.
When a KMT2A rearrangement is identified, testing with 1 or more dual-fusion FISH (D-FISH) probe sets may be performed in an attempt to identify the translocation partner for the following abnormalities:
t(4;11)(q21;q23) or KMT2A::AFF1 fusion, AFF1/KMT2A probe set
t(6;11)(q27;q23) or KMT2A::AFDN ;fusion, AFDN/KMT2A probe set
t(9;11)(p22;q23) or KMT2A::MLLT3 fusion, MLLT3/KMT2A probe set
t(10;11)(p12;q23) or KMT2A::MLLT10 fusion, MLLT10/KMT2A probe set
t(11;19)(q23;p13.1) or KMT2A::MLLT1 fusion, KMT2A/ELL probe set
t(11;19)(q23;p13.3) or KMT2A::ELL fusion, KMT2A/MLLT1 probe set
When an unbalanced CRLF2 rearrangement is identified concurrently with an IGH rearrangement, testing using the CRLF2/IGH probe set will be considered to identify a potential t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32) cryptic translocation.
When an extra or atypical ABL1 signal is identified in the absence of the BCR::ABL1 fusion, testing using the ABL1 break-apart probe set may be performed to identify a potential variant translocation involving ABL1, t(9;var)(q34;?).
When an extra ETV6 signal is identified in the absence of ETV6::RUNX1 fusion, testing using the ETV6 break-apart probe set may be performed to evaluate for the presence or absence of a potential rearrangement involving ETV6 t(12;var)(p13;?).
When a MYC rearrangement is identified, testing using both the BCL2 and BCL6 break-apart probe sets will be performed.
If an unbalanced rearrangement of BCL2 is identified, testing using the IGH/BCL2 probe set will be considered to identify a potential t(14;18)(q32;q21) or IGH::BCL2 fusion.
For more information see B-Lymphoblastic Leukemia/Lymphoma Algorithm.
Method Name
A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Hyperdiploidy
Hypodiploid/pseudo-hyperdiploid
Hypotriploid/near-triploid
Ph- B-ALL
Ph+ B-ALL
BCR::ABL1-like (Philadelphia chromosome [Ph]-like) ALL
ABL class (rearrangements of ABL1, ABL2, PDGFRA, PDGFRB)
Intrachromosomal amplification of chromosome 21 or iAMP21
CRLF2 (Xp22.33) or (Yp11.32) rearrangement
t(X;14)(p22.33;q32)-IGH::CRLF2, CRLF2/IGH
t(Y;14)(p11.32;q32)-IGH::CRLF2, CRLF2/IGH
t(1;19)(q23;p13.3)-TCF3::PBX1 or PBX1/TCF3
ABL2 (1q25) rearrangement
BCL6 (3q27) rearrangement
+4,+10,+17
PDGFRB (5q32) rearrangement
IKZF1 (7p12.2) deletion
t(8;14)(q24.21;q32)-IGH::MYC or MYC/IGH
MYC (8q24.21) rearrangement
JAK2 (9p24.1) rearrangement
ABL1 (9q34) rearrangement
t(9;22)(q34;q11)-BCR::ABL1 or BCR/ABL1
KMT2A (11q23) rearrangement or MLL rearrangement
t(4;11)(q21;q23)-KMT2A::AFF1 or AFF1/KMT2A or AFF1/MLL or AF4/MLL
t(6;11)(q27;q23)-KMT2A::AFDN or AFDN/KMT2A or MLLT4/MLL or AF6/MLL
t(9;11)(p21;q23)-KMT2A::MLLT3 or MLLT3/KMT2A or MLLT3/MLL or AF9/MLL
t(10;11)(p12;q23)- KMT2A::MLLT10 or MLLT10/KMT2A or MLLT10/MLL or AF10/MLL
t(11;19)(q23;p13.3)-KMT2A::MLLT1 or KMT2A/MLLT1 or MLL/MLLT1 or MLL/ENL
t(11;19)(q23;p13.1)- KMT2A::ELL or KMT2A/ELL or MLL/ELL
ETV6 (12p13) rearrangement
t(12;21)(p13;q22)-ETV6::RUNX1, ETV6/RUNX1 or TEL/AML1
IGH (14q32) rearrangement
t(14;18)(q32;q21)-IGH::BCL2 or BCL2/IGH
BCL2 (18q21) rearrangement
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes a charge for the probe application, analysis, and professional interpretation of results for 9 probe sets (19 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets 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.
This test is performed as panel testing only using the following analysis algorithm.
The diagnostic pediatric/young adult B-lymphoblastic leukemia (B-ALL) FISH panel includes testing for the following abnormalities using the FISH probes listed:
CRLF2 (Xp22.33) or (Yp11.32) rearrangement, CRLF2 break-apart probe set
t(1;19)(q23;p13) or TCF3::PBX1 fusion, PBX1/TCF3 probe set
Hyperdiploidy or +4,+10,+17, D4Z1/D10Z1/D17Z1 probe set
t(8;14)(q24.21;q32) or IGH::MYC fusion, MYC/IGH probe set
t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set
t(9;22)(q34;q11.2) or BCR::ABL1 fusion, ABL1/BCR probe set
t(11q23;var) or KMT2A rearrangement, KMT2A break-apart probe set
t(12;21)(p13;q22) or ETV6::RUNX1 fusion or iAMP21, ETV6/RUNX1 probe set
t(14q32;var) or IGH rearrangement, IGH break-apart probe set
If results for the initial panel are negative or demonstrate nonclassical abnormalities, the B-lymphoblastic leukemia/lymphoma with BCR::ABL1-like features panel will be performed as a secondary panel. This panel includes testing for the following kinase activating chromosome abnormalities, using the FISH probes listed below, as well as IKZF1 deletion, which often accompanies BCR::ABL1-like ALL.
t(1q25;var) or ABL2 rearrangement, ABL2 break-apart probe set
t(5q32;var) or PDGFRB rearrangement, PDGFRB break-apart probe set
t(9p24.1;var) or JAK2 rearrangement, JAK2 break-apart probe set
t(9q34;var) or ABL1 rearrangement, ABL1 break-apart probe set
7p- or IKZF1 deletion, IKZF1/CEP7 probe set
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes used will have the results included within the final report and will be performed at an additional charge. In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.
When a KMT2A rearrangement is identified, testing with 1 or more dual-fusion FISH (D-FISH) probe sets may be performed in an attempt to identify the translocation partner for the following abnormalities:
t(4;11)(q21;q23) or KMT2A::AFF1 fusion, AFF1/KMT2A probe set
t(6;11)(q27;q23) or KMT2A::AFDN ;fusion, AFDN/KMT2A probe set
t(9;11)(p22;q23) or KMT2A::MLLT3 fusion, MLLT3/KMT2A probe set
t(10;11)(p12;q23) or KMT2A::MLLT10 fusion, MLLT10/KMT2A probe set
t(11;19)(q23;p13.1) or KMT2A::MLLT1 fusion, KMT2A/ELL probe set
t(11;19)(q23;p13.3) or KMT2A::ELL fusion, KMT2A/MLLT1 probe set
When an unbalanced CRLF2 rearrangement is identified concurrently with an IGH rearrangement, testing using the CRLF2/IGH probe set will be considered to identify a potential t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32) cryptic translocation.
When an extra or atypical ABL1 signal is identified in the absence of the BCR::ABL1 fusion, testing using the ABL1 break-apart probe set may be performed to identify a potential variant translocation involving ABL1, t(9;var)(q34;?).
When an extra ETV6 signal is identified in the absence of ETV6::RUNX1 fusion, testing using the ETV6 break-apart probe set may be performed to evaluate for the presence or absence of a potential rearrangement involving ETV6 t(12;var)(p13;?).
When a MYC rearrangement is identified, testing using both the BCL2 and BCL6 break-apart probe sets will be performed.
If an unbalanced rearrangement of BCL2 is identified, testing using the IGH/BCL2 probe set will be considered to identify a potential t(14;18)(q32;q21) or IGH::BCL2 fusion.
For more information see B-Lymphoblastic Leukemia/Lymphoma Algorithm.
Specimen Type
Describes the specimen type validated for testing
Varies
Ordering Guidance
This test is only performed on specimens from patients with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) who are aged 30 years 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-ALL/LBL. At follow-up, or if the patient clinically relapses, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) is useful to identify cytogenetic changes in the neoplastic clone or the possible emergence of a new therapy-related myeloid clone. Additionally, targeted B-ALL FISH probes can be evaluated based on the abnormalities identified in the diagnostic study.
If targeted 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 this test is ordered on a patient aged 31 years or older, this test will be canceled and automatically reordered by the laboratory as BALAF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies.
If this test is ordered and the laboratory is informed that the patient is on a Children's Oncology Group (COG) 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, Varies.
If either AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies; or TALFP / Pediatric T-Lymphoblastic Leukemia/Lymphoma Panel, FISH, Varies, is 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 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 BALFP, the same reflex testing will be performed in the BALMF. This cancellation is necessary to avoid duplicate testing. Probes for ABL1/BCR and break-apart KMT2A will still be performed as part of the pediatric T-ALL FISH panel.
If PHLFD / B-Lymphoblastic Leukemia/Lymphoma with BCR::ABL1-like Features Panel, 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-LBL, 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 fluorescence in situ hybridization panel should be performed. If there is limited specimen available, only this test will be performed.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. 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.
2. 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, but appropriate testing and interpretation may be compromised or delayed.
3. If the patient has received an opposite sex bone marrow transplant, note this information on the request.
4. If the patient has Down syndrome, note this information on the request.
ORDER QUESTIONS AND ANSWERS
Question ID | Description | Answers |
---|---|---|
GC153 | Reason for Referral | |
GC154 | Specimen |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Submit only 1 of the following specimens:
Preferred
Specimen Type: Bone marrow
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (sodium 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 (sodium 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.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Bone marrow: 1 mL; Whole blood: 2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Refrigerated |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and BCR::ABL1-like B-ALL in pediatric/young adult patients using a laboratory-designated probe set algorithm
As an adjunct to conventional chromosome studies in pediatric/young adult patients with B-ALL
Evaluating specimens in which chromosome studies are unsuccessful
This test should not be used to screen for residual B-ALL/LBL.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes a charge for the probe application, analysis, and professional interpretation of results for 9 probe sets (19 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets 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.
This test is performed as panel testing only using the following analysis algorithm.
The diagnostic pediatric/young adult B-lymphoblastic leukemia (B-ALL) FISH panel includes testing for the following abnormalities using the FISH probes listed:
CRLF2 (Xp22.33) or (Yp11.32) rearrangement, CRLF2 break-apart probe set
t(1;19)(q23;p13) or TCF3::PBX1 fusion, PBX1/TCF3 probe set
Hyperdiploidy or +4,+10,+17, D4Z1/D10Z1/D17Z1 probe set
t(8;14)(q24.21;q32) or IGH::MYC fusion, MYC/IGH probe set
t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set
t(9;22)(q34;q11.2) or BCR::ABL1 fusion, ABL1/BCR probe set
t(11q23;var) or KMT2A rearrangement, KMT2A break-apart probe set
t(12;21)(p13;q22) or ETV6::RUNX1 fusion or iAMP21, ETV6/RUNX1 probe set
t(14q32;var) or IGH rearrangement, IGH break-apart probe set
If results for the initial panel are negative or demonstrate nonclassical abnormalities, the B-lymphoblastic leukemia/lymphoma with BCR::ABL1-like features panel will be performed as a secondary panel. This panel includes testing for the following kinase activating chromosome abnormalities, using the FISH probes listed below, as well as IKZF1 deletion, which often accompanies BCR::ABL1-like ALL.
t(1q25;var) or ABL2 rearrangement, ABL2 break-apart probe set
t(5q32;var) or PDGFRB rearrangement, PDGFRB break-apart probe set
t(9p24.1;var) or JAK2 rearrangement, JAK2 break-apart probe set
t(9q34;var) or ABL1 rearrangement, ABL1 break-apart probe set
7p- or IKZF1 deletion, IKZF1/CEP7 probe set
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes used will have the results included within the final report and will be performed at an additional charge. In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.
When a KMT2A rearrangement is identified, testing with 1 or more dual-fusion FISH (D-FISH) probe sets may be performed in an attempt to identify the translocation partner for the following abnormalities:
t(4;11)(q21;q23) or KMT2A::AFF1 fusion, AFF1/KMT2A probe set
t(6;11)(q27;q23) or KMT2A::AFDN ;fusion, AFDN/KMT2A probe set
t(9;11)(p22;q23) or KMT2A::MLLT3 fusion, MLLT3/KMT2A probe set
t(10;11)(p12;q23) or KMT2A::MLLT10 fusion, MLLT10/KMT2A probe set
t(11;19)(q23;p13.1) or KMT2A::MLLT1 fusion, KMT2A/ELL probe set
t(11;19)(q23;p13.3) or KMT2A::ELL fusion, KMT2A/MLLT1 probe set
When an unbalanced CRLF2 rearrangement is identified concurrently with an IGH rearrangement, testing using the CRLF2/IGH probe set will be considered to identify a potential t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32) cryptic translocation.
When an extra or atypical ABL1 signal is identified in the absence of the BCR::ABL1 fusion, testing using the ABL1 break-apart probe set may be performed to identify a potential variant translocation involving ABL1, t(9;var)(q34;?).
When an extra ETV6 signal is identified in the absence of ETV6::RUNX1 fusion, testing using the ETV6 break-apart probe set may be performed to evaluate for the presence or absence of a potential rearrangement involving ETV6 t(12;var)(p13;?).
When a MYC rearrangement is identified, testing using both the BCL2 and BCL6 break-apart probe sets will be performed.
If an unbalanced rearrangement of BCL2 is identified, testing using the IGH/BCL2 probe set will be considered to identify a potential t(14;18)(q32;q21) or IGH::BCL2 fusion.
For more information see B-Lymphoblastic Leukemia/Lymphoma Algorithm.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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 age 50. B-ALL/LBL is slightly more common in male patients than female patients. There is also an increased incidence of B-ALL/LBL in individuals with genetic conditions such as Down syndrome, Fanconi anemia, Bloom syndrome, ataxia telangiectasia, Li-Fraumeni syndrome, X-linked agammaglobulinemia, and severe combined immunodeficiency. The overall cure rate for B-ALL/LBL in children is approximately 90%, and about 45% to 60% of adults have long-term disease-free survival. Of note, the IGH::CRLF2 fusion is more commonly observed in patients with Down syndrome or of Hispanic descent.
Specific cytogenetic abnormalities are identified in most cases of B-ALL/LBL by conventional chromosome studies or fluorescence in situ hybridization (FISH) studies. B-ALL genetic subgroups are important to detect and can be critical prognostic markers. For example, a decision for early transplantation may be made if BCR::ABL1 fusion, KMT2A rearrangement, iAMP21, or a hypodiploid clone is identified. In contrast, if the ETV6::RUNX1 fusion or hyperdiploidy is identified, the patient has a more favorable prognosis and transplantation is rarely initially considered.
A newly recognized World Health Organization entity called B-ALL with BCR::ABL1-like features is increasing in importance due to the poor prognosis seen in pediatric, adolescent, and young adult ALL. Common features of this entity involve rearrangements with tyrosine kinase genes involving the following genes: ABL2, PDGFRB, JAK2, ABL1, CRLF2, and P2RY8, as well as deletions involving IKZF1. Patients who have failed conventional therapies have demonstrated favorable responses to targeted therapies when rearrangements involving these specific gene regions have been identified.
Evaluation of the MYC gene region is included in all diagnostic B-ALL panels to evaluate for Burkitt lymphoma. If a positive result is obtained, additional testing for the BCL2 and BCL6 gene regions will be considered.
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 to resolve questions related to ploidy (hyperdiploid clone vs doubled hypodiploid clone) or to resolve certain clonal structural rearrangements such as the presence or absence of intrachromosomal 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/Lymphoma
Leukemia type | Cytogenetic change | Typical demographic | Risk category |
B-acute lymphoblastic leukemia/lymphoma | t(12;21)(p13;q22), ETV6::RUNX1 | Pediatric | Favorable |
Hyperdiploidy | Pediatric | Favorable | |
t(1;19)(q23;p13.3), TCF3::PBX1 | Pediatric | Intermediate to favorable | |
t(9;22)(q34;q11.2), BCR::ABL1 | All ages | Unfavorable | |
iAMP21, RUNX1 | Pediatric | Unfavorable | |
t(11q23;var), KMT2A rearrangement | All ages | Unfavorable | |
t(4;11)(q21;q23), KMT2A::AFF1 | All ages | Unfavorable | |
t(6;11)(q27;q23), KMT2A::AFDN | All ages | Unfavorable | |
t(9;11)(p21.3;q23), KMT2A::MLLT3 | All ages | Unfavorable | |
t(10;11)(p12;q23), KMT2A::MLLT10 | All ages | Unfavorable | |
t(11;19)(q23;p13.3), KMT2A::MLLT1 | All ages | Unfavorable | |
t(11;19)(q23;p13.1), KMT2A::ELL | All ages | Unfavorable | |
t(14q32;var), IGH rearrangement | All ages | Variable | |
t(X;14)(p22;q32)/t(Y;14)(p11;q32), IGH::CRLF2 | Adolescent/ young adult | Unfavorable | |
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement | All ages | Unfavorable | |
t(8q24.21;var), MYC rearrangement | Pediatric/ adolescent/ young adult | ||
Complex karyotype (> or =4 abnormalities) | Adult | Unfavorable | |
Low hypodiploidy/near-triploidy | Adult | Unfavorable | |
Near-haploid/hypodiploid | All ages | Unfavorable | |
del(7p) IKZF1 deletion | All ages | Unfavorable in absence of ERG deletion | |
BCR::ABL1-like acute lymphoblastic leukemia/lymphoma | t(1q25;var), ABL2 rearrangement | Pediatric/ adolescent/ young adult | Unfavorable |
t(5q32;var), PDGFRB rearrangement | |||
t(9p24.1;var), JAK2 rearrangement | |||
t(9q34;var), ABL1 rearrangement | |||
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement | |||
t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement |
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
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 a neoplastic disorder.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to clinical and pathologic information.
Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies because the latter detects chromosome abnormalities associated with other hematological disorders that would be missed in a targeted B-lymphoblastic leukemia FISH panel test.
Bone marrow is the preferred specimen type for this FISH test. If bone marrow is not available, a blood specimen may be used if there are circulating malignant cells in the blood specimen (as verified by a hematopathologist).
If no FISH signals are observed post-hybridization, the case will be released indicating a lack of FISH results.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
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;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;26:123-135
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;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;2014(1):174-180
5. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. WHO Classification of Tumours. Vol 2.
Method Description
Describes how the test is performed and provides a method-specific reference
This test is performed using commercially available and laboratory-developed probes. Deletion of IKZF1 on chromosome 7 and gain or losses of chromosomes 4, 10, and 17 are detected using enumeration strategy probes. Rearrangements involving CRLF2, ABL2, BCL3, PDGFRB, MYC, JAK2, ABL1, MLL, ETV6, IGH, and BCL2 are detected using dual-color break-apart (BAP) strategy probes. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect t(X/Y;14), t(1;19), t(8;14), t(9;22), t(12;21), t(14;18), and in reflex testing when a rearrangement of the KMT2A gene is detected. Amplification of the RUNX1 gene region is detected using a D-FISH probe to enumerate copies of the RUNX1 probe. For enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. Results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
88271 x18, 88275 x9, 88291 x1-FISH Probe, Analysis, Interpretation; 9 probe sets
88271 x2, 88275 x1-FISH Probe, Analysis; each additional probe set (if appropriate)
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
BALFP | Pediatric B-ALL/LBL panel, FISH | 102100-5 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
622401 | Result Summary | 50397-9 |
622402 | Interpretation | 69965-2 |
622403 | Result Table | 93356-4 |
622404 | Result | 62356-1 |
GC153 | Reason for Referral | 42349-1 |
GC154 | Specimen | 31208-2 |
622405 | Source | 31208-2 |
622406 | Method | 85069-3 |
622407 | Additional Information | 48767-8 |
622408 | Disclaimer | 62364-5 |
622409 | Released By | 18771-6 |
Test Setup Resources
Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
Test Update Resources
Change Type | Effective Date |
---|---|
New Test | 2025-09-09 |