Acute Myeloid Leukemia (AML), FISH (AMLF)

Test Code: AMLFSO

Overview
Ordering
Specimen
Performing
Clinical/Interpretive
Contacts
Coding

Synonyms/Keywords

+8 (trisomy 8)
-5 (monosomy 5)
-7 (monosomy 7)
13q- (13q deletion)
17p- (17p deletion) or TP53
20q- (20q deletion)
5q- (5q deletion)
7q- (7q deletion)
Acute Promyelocytic Leukemia (APL)
AML-M0
AML-M1
AML-M2
AML-M3
AML-M4
AML-M4eo
AML-M5
AML-M7
inv(16) - inv(16) - MYH11/CBFB
inv(3) - inv(3) - RPN1/MECOM or RPN1/EVI
isodicentric 20q - idic(20)
MLL (11q23) rearrangement
t(1;22)(p13.3;q13.1q13.2) - RBM15/MKL1
t(1;3)(p36.3;q21.3) - PRDM16/RPN1
t(10;11)(p13;q23) - MLLT10/MLL or AF10/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 or MLL/ENL
t(15;17)(q24.1;q21) - PML/RARA
t(16;16)(p13.1;q22) - MYH11/CBFB
t(3;21)(q26.2;q22) - MECOM/RUNX1or EVI1/AML1
t(3;3)(q21.3;q26.2) - RPN1/MECOM or RPN1/EVI1
t(3;5)(q25.32;q35.1) - MLF1/NPM1
t(6;11)(q27;q23) - MLLT4/MLL or AF6/MLL
t(6;9)(p23;q34) - DEK/NUP214 or DEK/CAN
t(8;16)(p11.2;p13.3) - KAT6A/CREBBP or MYST3/CREBBP
t(8;21)(q22;q22) - RUNX1T1/RUNX1 or ETO/AML1
t(9;11)(p22;q23) - MLLT3/MLL or AF9/MLL
t(9;22)(q34;q11.2) - BCR/ABL1
t(4;11)(q21;q23) - AFF1/MLL or AF4/MLL

Test Components

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

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 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).

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

Specimen Requirements

Fasting Required	Specimen Type	Preferred Container/Tube	Specimen Volume	Specimen Minimum Volume (allows for 1 repeat)
Submit only 1 of the following specimens:
No	Whole Blood	Sodium-Heparin Green Top Tube (GTT)	10 mL	2 mL
No	Bone Marrow	Sodium-Heparin Green Top Tube (GTT)	2 mL	1 mL

Collection Processing Instructions

1. Invert several times to mix blood.

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

Specimen Stability Information

Specimen Type	Temperature
Varies	Ambient (preferred)
Varies	Refrigerated

Rejection Criteria

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.

Interference

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).

Performing Laboratory Information

Performing Location	Day(s) Test Performed	Analytical Time	Methodology/Instrumentation
Mayo Medical Laboratories	Monday through Friday	7 days	Fluorescence In Situ Hybridization (FISH)

Reference Lab

Mayo Clinic Laboratories

Test 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 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] and MLL 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 Range Information

Interpretive Report

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.

Outreach CPTs

CPT	Quantity	Description	Comments
88291	1	Cyto/Molecular Report
88271	2	Cytogenetics DNA Probe
88271		Additional probes may be added at additional fees	As needed

Synonyms/Keywords

Test Components

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

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 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).

Ordering Applications

Ordering Application	Description
COM	Acute Myeloid Leuk (AML), FISH

If the ordering application you are looking for is not listed, contact your local laboratory for assistance.

Specimen Requirements

Fasting Required	Specimen Type	Preferred Container/Tube	Specimen Volume	Specimen Minimum Volume (allows for 1 repeat)
Submit only 1 of the following specimens:
No	Whole Blood	Sodium-Heparin Green Top Tube (GTT)	10 mL	2 mL
No	Bone Marrow	Sodium-Heparin Green Top Tube (GTT)	2 mL	1 mL

Collection Processing

1. Invert several times to mix blood.

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

Specimen Stability Information

Specimen Type	Temperature
Varies	Ambient (preferred)
Varies	Refrigerated

Rejection Criteria

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.

Interference

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.

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

Test Components

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

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 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).

Reference Range Information

Interpretive Report

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.

For more information visit:

http://labtestsonline.org

Performing Laboratory Information

Performing Location	Day(s) Test Performed	Analytical Time	Methodology/Instrumentation
Mayo Medical Laboratories	Monday through Friday	7 days	Fluorescence In Situ Hybridization (FISH)

Reference Lab

Mayo Clinic Laboratories

For billing questions, see Contacts

Outreach CPTs

CPT	Quantity	Description	Comments
88291	1	Cyto/Molecular Report
88271	2	Cytogenetics DNA Probe
88271		Additional probes may be added at additional fees	As needed

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For most current information refer to the Marshfield Laboratory online reference manual.

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25583 Acute Myeloid Leukemia (AML), FISH (AMLF)