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Test Code AMLF Acute Myeloid Leukemia (AML), FISH

Useful For

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with acute myeloid leukemia or other myeloid malignancies

 

Evaluating specimens in which standard cytogenetic analysis is unsuccessful

 

Identifying and tracking known chromosome abnormalities in patients with myeloid malignancies and tracking response to therapy

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes 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.

 

See Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up in Special Instructions.

 

Indicate if the entire panel is to be performed. If the patient is being treated for known abnormalities, indicate which probes should be used.

 

Indicate the subtype, as well as, which abnormalities need to be investigated from the following profile:

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

11p15.4 rearrangement, NUP98

11q23 rearrangement, [M0-M7], MLL (KMT2A)

inv(16), [M4, Eos], MYH11/CBFB

+8, [M0-M7], D8Z2/MYC

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], MYST3/CREBBP

t(3;5)(q25.32;q35.1), MLF1/NPM1

t(1;22), [M7], RBM15/MKL1*

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

13q-, D13S319/LAMP1

17p-, TP53/D17Z1

20q-, D20S108/20qter

t(9;22), BCR/ABL1

 

*The RBM15/MKL1 probe set will only be used to test patients with a suspected or confirmed diagnosis of M7 or to confirm a t(1;22) identified by chromosome analysis.

 

-When 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).

-When a 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/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(10;11)(p13;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.

-When 3 copies of MECOM are observed with no fusion with RPN1, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.

-When 3 copies of RPN1 are observed with no fusion with MECOM, reflex testing using the PRDM16/RPN1 probe set will be performed to identify a potential t(1;3)(p36;q21).

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

AML, FISH

Specimen Type

Varies


Advisory Information


This assay detects chromosome abnormalities observed in the blood and bone marrow of patients with acute myeloid leukemia. For testing paraffin-embedded tissue samples from patients with myeloid sarcoma, see MSTF / Myeloid Sarcoma, FISH, Tissue.

 

This test is not appropriate for testing paraffin-embedded tissue samples from patients with myeloid sarcoma, order MSTF / Myeloid Sarcoma, FISH, Tissue.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


Provide a reason for referral 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:

 

Specimen Type: Blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 7-10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

 

Specimen Type: Bone marrow

Container/Tube: Green top (sodium heparin)

Specimen Volume: 1-2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.


Specimen Minimum Volume

Blood: 2 mL; Bone Marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. Contact the laboratory with questions.

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 subtypes of AML have been recognized (termed AML-M0, M1, M2, M3, M4, M5, M6, and M7) based on the cell morphology and myeloid lineage involved.

 

In addition to morphology, several recurrent chromosomal abnormalities have been linked to specific subtypes of AML. The most common chromosome abnormalities associated with AML include t(8;21), t(15;17), inv(16), +8, t(6;9), t(8;16), t(1;22), t(9;22), t(3;5), and abnormalities of the MLL (KMT2A) gene at 11q23. The most common genes juxtaposed with MLL through translocation events in AML include AFF1- t(4;11), MLTT4- t(6;11), MLLT3- t(9;11), MLLT10- t(10;11), CREBBP- t(11;16), ELL- t(11;19p13.1), and MLLT1- t(11;19p13.3).

 

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-, +8, 13q-, 17p-, 20q-, t(1;3), and t(3;21). In combination, the multiple 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: eg, inv(16), MLL and NUP98 abnormalities.

 

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 this testing can also be used to track response to therapy.

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.

 

Detection of an abnormal clone likely indicates a diagnosis of an acute myeloid leukemia of various subtypes.

 

The absence of an abnormal clone does not rule out the presence of a 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.

 

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 malignant cells in the blood specimen (as verified by hematopathology).

Supportive Data

Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of 25 normal specimens. For each probe set a series of chromosomally abnormal specimens were evaluated to confirm each probe set detected the abnormality it was designed to detect.

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 Jul;116(3):354-365

2. International Agency for Research on Cancer (IARC): World Health Organization Classification of Tumour of Haematopoietic and Lymphoid Tissues. Fourth edition. Edited by SH Swerdlow, E Campo, NL Harris, et al. IARC Press, Lyon, France. Oxford University Press, 2008

Method Description

This test is performed using commercially available and laboratory-developed probes. Deletion or monosomy of chromosomes 5, 7, 13, trisomy of chromosome 8 and deletion or rearrangement of chromosome 17 and 20 are detected using enumeration strategy probes. Rearrangements involving MLL (KMT2A) and NUP98 are detected using a dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion (D-FISH) strategy probe sets are used to detect inv(3), inv(16), t(8;21), t(15;17), t(6;9), t(8;16), t(3;21), t(1;3), t(11;22), t(9;22), t(3;5), t(1;22), and in reflex testing when rearrangements of the MLL gene are detected. For enumeration and BAP strategy probe sets, 200 interphase nuclei are scored; 500 interphase nuclei are scored when D-FISH probes are used. Two technologists analyze each probe set and all results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.

Analytic Time

7 days

Specimen Retention Time

Four weeks

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report

88271 x 2-DNA probe, each; each additional probe set (if appropriate)

88271-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271 x 3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)

88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLF AML, FISH In Process

 

Result ID Test Result Name Result LOINC Value
51894 Result Summary 50397-9
51896 Interpretation 69965-2
51895 Result Table No LOINC Needed
54545 Result In Process
CG682 Reason for Referral 42349-1
CG683 Specimen 31208-2
51897 Source 31208-2
51898 Method 49549-9
54454 Additional Information 48767-8
53868 Disclaimer 62364-5
51899 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)