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HelpTest Code AMLFP Pediatric Acute Myeloid Leukemia Panel, FISH, Varies
Ordering Guidance
This test is only performed on specimens from patients with acute myeloid leukemia (AML) who are 30 years of age or younger.
If acute promyelocytic leukemia is probable and expedited PML/RARA results are needed, order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies. If PML::RARA fusion is identified in AMLFP, the laboratory will automatically expedite analysis. Results will not be provided until the complete panel testing is finalized. The laboratory is unable to provide preliminary results.
This test should NOT be used to screen for residual AML.
Minimal residual disease (MRD) monitoring in patients with AML known to have either t(15;17) with PML::RARA fusion, inv(16) or t(16;16) with CBFB::MYH11 fusion, t(8;21) with RUNX1::RUNX1T1 fusion, or t(9;22) with BCR::ABL1 fusion should be performed by quantitative reverse transcriptase polymerase chain reaction and NOT by fluorescence in situ hybridization (FISH) testing.
It is recommended that MRD monitoring in AML patients be performed by AML-MRD flow cytometry rather than FISH testing using individual FISH probe sets. This is particularly true for the deletion/monosomy probe sets (5 and 7) which have cutoffs that exceed 10% of nuclei.
If targeted AML FISH probes are preferred, order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies and request specific probes for targeted abnormalities.
This test is intended for instances when the entire AML FISH panel is needed for a pediatric patient.
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 AMLFA / Adult Acute Myeloid Leukemia Panel, 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 (COG) protocol, this test will be canceled and automatically reordered by the laboratory as COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies.
If either (or both) BALFP / Pediatric B-Lymphoblastic Leukemia/Lymphoma 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 AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies with the following FISH probes: RUNX1T1/RUNX1, PML/RARA, MYH11/CBFB, GATA2/MECOM, DEK/NUP214, D5S630/EGFR1, D7Z1/D7S486, MNX1/ETV6, KAT6A/CREBBP, GLIS2/CBFA2T3, and NUP98 3'/5'. If an abnormality is identified that would result in reflex testing in this test, the same reflex testing will be performed in the AMLMF. This cancellation is necessary to avoid duplicate testing. The break-apart KMT2A probe set will still be performed as part of either the pediatric B-ALL or T-ALL FISH panel.
For testing paraffin-embedded tissue specimens from patients with AML/myeloid sarcoma, order MSTF / Myeloid Sarcoma, FISH, Tissue. If a paraffin-embedded tissue specimen is submitted for this test, this test will be canceled and MSTF will be added and performed as the appropriate test.
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.
Specimen Required
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 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 in original tube. Do not aliquot.
Useful For
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with acute myeloid leukemia (AML) in patients 30 years and younger using a laboratory-designated probe set algorithm
As an adjunct to conventional chromosome studies in patients with AML
Evaluating specimens in which chromosome studies are unsuccessful
This test should not be used to screen for residual acute myeloid leukemia (AML)
Testing Algorithm
This test includes a charge for the probe application, analysis, and professional interpretation of results for 11 probe sets (22 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. If no cells are available for analysis, no analysis charges will be incurred.
This test is performed as panel testing only and will be performed using the following analysis algorithm.
The diagnostic pediatric/young adult FISH panel includes testing for the following abnormalities using the FISH probes listed:
inv(3) or t(3;3) or GATA2::MECOM fusion, GATA2/MECOM probe set
-5/5q-, D5S630/EGR1 probe set
t(6;9)(p22.3;q34) or DEK::NUP214 fusion, DEK/NUP214 probe set
-7/7q-, D7Z1/D7S486 probe set
t(7;12)(q36;p13) or MNX1::ETV6 fusion, MNX1/ETV6 probe set
t(8;16)(p11;p13) or KAT6A::CREBBP fusion, KAT6A/CREBBP probe set
t(8;21)(q21.3;q22) or RUNX1::RUNX1T1 fusion, RUNX1T1/RUNX1 probe set
t(11p15;var) or NUP98 rearrangement, NUP98 break-apart probe set
t(11q23;var) or KMT2A rearrangement, KMT2A break-apart probe set
t(15;17)(q24;q21) or PML::RARA fusion, PML/RARA probe set
inv(16) or t(16;16) or CBFB::MYH11 fusion, MYH11/CBFB probe set
inv(16)(p13q24) or CBFA2T3:: GLIS2 fusion, CBFA2T3/GLIS2 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.
In the absence of GATA2::MECOM fusion, when an extra GATA2 signal is identified, testing using the PRDM16/GATA2 probe set to identify a potential t(1;3)(p36;q21) may be performed.
In the absence of GATA2::MECOM fusion, when an extra MECOM signal is identified, testing using the break-apart MECOM probe set to identify a potential variant translocation involving MECOM, t(3;var)(q26.2;?) may be performed.
When a KMT2A rearrangement is identified, testing with 1 or more dual-fusion (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;16)(q23;p13.3) or KMT2A::CREBBP fusion, KMT2A/CREBBP 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
In the absence of PML::RARA fusion, when an extra or atypical RARA signal is identified, testing using the RARA break-apart probe set to identify a potential variant translocation involving RARA, t(17;var)(q21;?) may be performed.
In the absence of CBFB::MYH11 fusion, when an extra CBFB signal is identified, testing using the CBFB break-apart probe set to evaluate for the presence or absence of a potential variant translocation involving CBFB, t(16;var)(q22;?) may be performed.
In the absence of RUNX1::RUNX1T1 fusion, when an extra RUNX1 signal is identified, testing using the RUNX1 break-apart probe set to evaluate for the presence or absence of a potential variant translocation involving RUNX1, t(21;var)(q22;?) may be performed.
For more information see:
Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
Special Instructions
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
Pediatric-AML panel, FISHSpecimen Type
VariesSpecimen Minimum Volume
Bone marrow: 1 mL; Whole blood: 2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Acute myeloid leukemia (AML) is one of the most common adult leukemias, with almost 10,000 new cases diagnosed per year. AML also comprises 15% of pediatric acute leukemia and accounts for the majority of infant (<1 year old) leukemia.
Several recurrent chromosomal abnormalities have been identified in AML with associated clinical significance. The most common chromosome abnormalities associated with AML include t(8;21), t(15;17), inv(16) or t(16;16), and abnormalities of the KMT2A gene at 11q23. The most common genes juxtaposed with KMT2A through translocation events in AML include AFDN- t(6;11), MLLT3- t(9;11), MLLT10- t(10;11), and ELL-t(11;19p13.1).
Acute myeloid leukemia can also evolve from myelodysplasia (MDS). Thus, the common chromosome abnormalities associated with MDS can also be identified in AML, which include: inv(3) or t(3;3), -5/5q-, -7/7q-. Overall, the recurrent chromosome abnormalities identified in patients with AML are observed in approximately 60% of diagnostic AML cases.
Conventional chromosome analysis is the gold standard for identification of the common, recurrent chromosome abnormalities in AML. However, some of the subtle rearrangements can be missed by karyotype, including inv(16) or t(16;16) and KMT2A rearrangements.
Fluorescence in situ hybridization analysis of nonproliferating (interphase) cells can be used to detect the common diagnostic and prognostic chromosome abnormalities observed in patients with AML.
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).
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 myeloid leukemia clone or another neoplastic disorder.
Cautions
This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.
Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies since only the common acute myeloid leukemia (AML) abnormalities are evaluated by the FISH panel and a chromosome analysis can also identify abnormalities associated with other hematological disorders that would be missed in a targeted AML 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 myeloblasts 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
1. Grimwade D, Hills RK, Moorman AV, et al. Refinement of cytogenetics classification in acute myeloid leukemia: determination of prognostic significance or rare recurring chromosomal abnormalities among 5879 younger adult patients treated in the United Kingdom Research Council trials. Blood. 2010;116(3):354-365
2. Swerdlow SH, Campo E, Harris NL, et al. eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017
3. Dohner H, Estey E, Grimwade D, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424-447. doi:10.1182/blood-2016-08-733196
4. Pollyea DA, Bixby D, Perl A, et al. Acute Myeloid Leukemia, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):17-27. doi:10.6004/jnccn.2021.0002
Method Description
This test is performed using commercially available and laboratory-developed fluorescence in situ hybridization (FISH) probes. Deletion or monosomy of chromosomes 5 and 7 are detected using enumeration strategy probes. Rearrangements involving MECOM, NUP98, KMT2A, CBFB, RARA, and RUNX1 are detected using a dual-color break-apart (BAP) strategy probe set. Dual-color, dual-fusion (D-FISH) strategy probe sets are used to detect t(1;3), inv(3) or t(3;3), t(6;9), t(7;12), t(8;16), t(8;21), t(15;17), inv(16) or t(16;16), and in reflex testing when rearrangements of the KMT2A gene are detected. For enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysSpecimen Retention Time
4 weeksPerforming 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
88271x22, 88275x11, 88291 x1-FISH Probe, Analysis, Interpretation; 11 probe sets
88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| AMLFP | Pediatric-AML panel, FISH | 102101-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 622391 | Result Summary | 50397-9 |
| 622392 | Interpretation | 69965-2 |
| 622393 | Result Table | 93356-4 |
| 622394 | Result | 62356-1 |
| GC150 | Reason for Referral | 42349-1 |
| GC151 | Specimen | 31208-2 |
| 622395 | Source | 31208-2 |
| 622396 | Method | 85069-3 |
| 622397 | Additional Information | 48767-8 |
| 622398 | Disclaimer | 62364-5 |
| 622399 | Released By | 18771-6 |