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Test ID LBOR0198 Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies


Ordering Guidance


This test is only performed on specimens from pediatric patients being considered for enrollment in a Children's Oncology Group (COG) protocol. If this test is ordered and the laboratory is informed that the patient is not on a Children's Oncology Group (COG) protocol, this test will be canceled and automatically reordered by the laboratory as AMLFP / Pediatric Acute Myeloid Leukemia panel, FISH, Varies.

 

At follow-up, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and targeted AML fluorescence in situ hybridization (FISH) probes can be evaluated based on the abnormalities identified in the diagnostic study. Order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies and request specific probes or abnormalities.

 

For children in whom disease relapse or a secondary myeloid neoplasm is a concern and enrollment in a new COG protocol is being considered; order COGBM / Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow.



Additional Testing Requirements


At diagnosis, conventional cytogenetic studies (COGBM / Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow) and this 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. Children's Oncology Group (COG) registration number and protocol number should be submitted with each specimen. The laboratory will not reject testing if this information is not provided; however, appropriate testing may be compromised or delayed.

2. 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.

3. 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.

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

5. If the patient has Down syndrome, 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 (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.


Secondary ID

113528

Useful For

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with acute myeloid leukemia (AML) in patients being considered for enrollment in Children's Oncology Group (COG) clinical trials and research protocols

 

As an adjunct to conventional chromosome studies in pediatric patients with AML being considered for enrollment in COG protocols

 

Evaluating specimens in which chromosome studies are unsuccessful

 

This test should not be used to screen for residual AML

Testing Algorithm

This test is only performed on specimens from pediatric patients being considered for enrollment in a Children's Oncology Group (COG) protocol. 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 fluorescence in situ hybridization (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 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 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, 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

Acute Leukemias of Ambiguous Lineage Testing Algorithm

Acute Myeloid Leukemia: Testing Algorithm

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

COG, AML, FISH

Specimen Type

Varies

Specimen 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.

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

88271 x 2, 88275, 88291-FISH Probe, Analysis, Interpretation; 1 probe set

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

Forms

If not ordering electronically, complete, print, and send a Children's Oncology Group Test Request (T829) with the specimen.