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Test ID AMLPF Acute Myeloid Leukemia (AML), FISH, Pediatric, 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.

 

This test should NOT be used to screen for residual acute myeloid leukemia (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 MYH11::CBFB fusion, or t(8;21) with RUNX1T1::RUNX1 fusion should be performed by quantitative reverse transcriptase polymerase chain reaction (RT-PCR) and NOT by FISH testing.

 

It is recommended that MRD monitoring in AML patients be performed by AML-MRD Flow cytometry rather than fluorescence in situ hybridization (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 limited 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 AMLAF / Acute Myeloid Leukemia (AML), FISH, Adult, 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) BALPF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies or TALPF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, 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, RPN1/MECOM, DEK/NUP214, D5S630/EGFR1, D7Z1/D7S486, break-apart ETV6, KAT6A/CREBBP, GLIS2/CBFA2T3, break-apart NUP98, and RBM15/MKL1. 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 MLL probe set will still be performed as part of either the pediatric B-ALL or T-ALL FISH panel.

 

For testing paraffin-embedded tissue samples from patients with AML/myeloid sarcoma, order MSTF / Myeloid Sarcoma, FISH, Tissue.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


A reason for testing and a flow cytometry and/or a bone marrow pathology report are requested 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.



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 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 in original tube. Do not aliquot.


Useful For

This test should not be used to screen for residual acute myeloid leukemia (AML).

 

Useful at diagnosis for detecting recurrent common chromosome abnormalities in pediatric patients with AML

 

An adjunct to chromosome studies in patients with AML

 

Evaluating specimens in which chromosome studies are unsuccessful

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 13 probe sets (26 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(16) or t(16;16), MYH11/CBFB

t(8;21), RUNX1T1/RUNX1

t(15;17), PML/RARA

11q23 rearrangement, MLL (KMT2A)

t(6;9), DEK/NUP214

inv(3) or t(3;3), RPN1/MECOM

t(8;16), KAT6A/CREBBP

t(1;22), RBM15/MKL1(MRTFA)

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/ D7S486

12p13 rearrangement, ETV6

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98

 

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, reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1::MLL, t(6;11)(q27;q23) MLLT4(AFDN)::MLL, t(9;11)(p22;q23) MLLT3::MLL, t(10;11)(p12;q23) MLLT10::MLL, t(11;16)(q23;p13.3) MLL::CREBBP, t(11;19)(q23;p13.1), MLL::ELL, or t(11;19)(q23;p13.3) MLL::MLLT1. In the event an 11q23 translocation is identified by chromosome analysis, only the targeted MLL reflex probe will be performed if applicable.

 

In the absence of RPN1::MECOM and RUNX1::RUNX1T1 fusion, when an extra MECOM signal and an extra RUNX1 signal are identified, reflex testing using the MECOM/RUNX1 probe set will be considered at the laboratory's discretion to identify a potential t(3;21)(q26.2;q22) rearrangement. Laboratory discretion may be influenced by available karyotype results.

 

In the absence of RPN1::MECOM fusion, when an extra RPN1 signal is identified, reflex testing using the PRDM16/RPN1 probe set will be considered at the laboratory's discretion to identify a potential t(1;3)(p36;q21). Laboratory discretion may be influenced by available karyotype results.

 

In the absence of RPN1::MECOM fusion, when an extra MECOM signal is identified, reflex testing using the break-apart MECOM probe set will be recommended at the laboratory's discretion to identify a potential variant translocation involving MECOM, t(3;var)(q26.2;?). Laboratory discretion may be influenced by available karyotype results.

 

In the absence of MYH11::CBFB fusion, when an extra CBFB signal is identified, reflex testing may be performed at the laboratory's discretion 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;?). Laboratory discretion may be influenced by available karyotype results.

 

In the absence of PML::RARA fusion, when an extra or atypical RARA signal is identified, testing using the RARA break-apart probe set may be performed at the laboratory's discretion to identify a potential variant translocation involving RARA, t(17;var)(q21;?). Laboratory discretion may be influenced by available karyotype results.

 

When an ETV6 rearrangement is identified, reflex testing using the MNX1/ETV6 probe set will be considered at the laboratory's discretion to identify a potential t(7;12)(q36;p13). Laboratory discretion may be influenced by available karyotype results.

 

When a NUP98 rearrangement is identified, reflex testing using the HOXA9/NUP98 probe set will be considered at the laboratory's discretion to identify a potential t(7;11)(p15;p15.4). Laboratory discretion may be influenced by available karyotype results.

 

In the absence of RUNX1::RUNX1T1 fusion, when an extra RUNX1 signal is identified, reflex testing may be recommended at the laboratory's discretion 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;?). Laboratory discretion may be influenced by available karyotype results.

 

For more information see:

Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up

Acute Leukemias of Ambiguous Lineage Testing Algorithm

Acute Myeloid Leukemia: Testing Algorithm

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

Pediatric AML, FISH

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 2 mL; Bone marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

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

88271x26, 88275x13, 88291 x1-FISH Probe, Analysis, Interpretation; 13 probe sets

88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLPF Pediatric AML, FISH 102103-9

 

Result ID Test Result Name Result LOINC Value
609528 Result Summary 50397-9
609529 Interpretation 69965-2
609530 Result Table 93356-4
609531 Result 62356-1
GC062 Reason for Referral 42349-1
GC063 Specimen 31208-2
609532 Source 31208-2
609533 Method 85069-3
609534 Additional Information 48767-8
609535 Disclaimer 62364-5
609536 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
AMLPB Probe, Each Additional (AMLPF) No, (Bill Only) No

Forms

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