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HelpTest ID: COGMF 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 AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies.
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.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A reason for testing, a flow cytometry and/or a bone marrow pathology report, and a 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, but appropriate testing and interpretation may be compromised or delayed. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
2. If a patient has received an opposite sex bone marrow transplant prior to specimen collection for this protocol, 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.
Acceptable:
Specimen Type: Blood
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (heparin) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Invert several times to mix blood.
Useful For
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization (FISH) probe analysis for classic rearrangements and chromosomal copy number changes associated with acute myeloid leukemia (AML) in patients being considered for enrolment in Children's Oncology Group (COG) clinical trials and research protocols
As an adjunct to conventional chromosome studies in performed in pediatric patients with AML being considered for enrollment in COG protocols
Testing Algorithm
This test is only performed on specimens from pediatric patients being considered for enrollment in a Children's Oncology Group (COG) protocol.
The fluorescence in situ hybridization (FISH) panel includes testing for the following abnormalities using the FISH probes listed:
inv(16), [M4, Eos], MYH11/CBFB
t(8;21), [M2], RUNX1T1/RUNX1
t(15;17), [M3], PML/RARA
11q23 rearrangement, [M0-M7], MLL (KMT2A)
t(6;9), [M2,M4], DEK/NUP214
inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM
t(8;16), [M4,M5], KAT6A/CREBBP
t(1;22), [M7], RBM15/MKL1
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
12p13 rearrangement, ETV6
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98
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
t(11;19)(q23;p13.3) MLL/MLLT1
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.
In the absence of RPN1::MECOM fusion, when an extra MECOM signal is identified, the MECOM/RUNX1 probe set will be considered to identify a potential t(3;21)(q26.2;q22) rearrangement.
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 to identify a potential t(1;3)(p36;q21).
In the absence of MYH11::CBFB fusion, when an extra CBFB signal is identified, reflex testing will be performed using the CBFB break-apart probe set to evaluate for the presence or absence of an CBFB rearrangement.
In the absence of PML::RARA fusion, when an extra or atypical RARA signal is identified, testing using a break-apart RARA probe set will be performed to identify a potential variant translocation involving RARA; example: t(17;var)( q21;?).
When an ETV6 rearrangement is identified, reflex testing using the MNX1/ETV6 probe set will be performed to identify a potential t(7;12)(q36;p13) rearrangement.
When a NUP98 rearrangement is identified, reflex testing using the HOXA9/NUP98 probe set will be performed to identify a potential t(7;11)(p15;p15.4) rearrangement.
For more information see:
-Acute Leukemias of Ambiguous Lineage Testing Algorithm
-Acute Myeloid Leukemia: Testing Algorithm
-Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
COG, AML, FISHSpecimen Type
VariesSpecimen Minimum Volume
Blood: 2 mL
Bone Marrow: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
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. The most common chromosome abnormalities associated with AML include t(8;21), t(15;17), inv(16), and abnormalities of the MLL (KMT2A) gene at 11q23. The most common genes juxtaposed with MLL through translocation events in AML include MLTT4(AFDN)- t(6;11), MLLT3- t(9;11), MLLT10- t(10;11), and ELL- t(11;19p13.1).
AML can also evolve from myelodysplasia (MDS). Thus, the common chromosome abnormalities associated with MDS can also be identified in AML, which include: inv(3), -5/5q-, -7/7q-, and 17p. 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) and MLL rearrangements.
Fluorescence in situ hybridization (FISH) analysis of nonproliferating (interphase) cells can be used to detect the common chromosome abnormalities observed in patients with AML. The abnormalities have diagnostic and prognostic relevance, and FISH testing can also be used to track response to therapy.
Metaphase FISH confirmation of classic translocations that are cryptic and not visually detectable by chromosome analysis [ie, t(6;11) associated with KMT2A/MLLT4(AFDN) fusion] is performed as required by Children's Oncology Group (COG) and is included as part of the electronic case submission by the Mayo Clinic Genomics Laboratory to COG for central review.
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.
The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.
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 5876 younger adult patients treated in the United Kingdom Research Council trials. Blood. 2010 Jul 22;116(3):354-365
2. Swerdlow SH, Campo E, Harris NL, et al. eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 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 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysTest 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)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| COGMF | COG, AML, FISH | 102101-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 602276 | Result Summary | 50397-9 |
| 602277 | Interpretation | 69965-2 |
| 602278 | Result Table | 93356-4 |
| 602279 | Result | 62356-1 |
| GC013 | Reason for Referral | 42349-1 |
| GC014 | Specimen | 31208-2 |
| 602281 | Source | 31208-2 |
| 602282 | Method | 85069-3 |
| 602283 | Additional Information | 48767-8 |
| 602284 | Disclaimer | 62364-5 |
| 602285 | Released By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Children's Oncology Group Test Request (T829) with the specimen.
mcl-fish