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

Acute Myeloid Leukemia (AML), FISH (AMLF)
Test Code: AMLFSO
Synonyms/Keywords
​-5 (monosomy 5)
-7 (monosomy 7)
17p- (17p deletion) or TP53
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)
t(1;22)(p13.3;q13.1q13.2) - RBM15/MKL1
t(1;3)(p36.3;q21.3) - PRDM16/RPN1
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(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
MLL or KMT2A (11q23) rearrangement
t(10;11)(p13;q23) - MLLT10/MLL or AF10/MLL
t(7;11)(p15;p15.4) - HOXA9/NUP98
Test Components

For diagnostic samples, all probes in the initial panel will be performed. The initial panel includes testing for the following abnormalities using the probes listed:

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

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

inv(16), [M4, Eos], MYH11/CBFB

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities:

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(1;22), [M7], RBM15/MKL1*

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

17p-, TP53/D17Z1

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 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).

-When 3 copies of RARA are observed with no fusion with PML, reflex testing using the 5'RARA/3'RARA rearrangement probe set will be performed to identify a potential variant translocation involving RARA; example: t(17;var)( q21;?).

-In the absence of BCR/ABL1 fusion, when an extra signal for ABL1 is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement. 

If the patient is being treated for known abnormalities, indicate which probes should be used. 

If this test is ordered and the laboratory is informed that the patient 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.

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 Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no 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.
 

1. 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.

2. A pathology and/or flow cytometry report may be requested by the Genomics Laboratory to optimize testing and aid in interpretation of results.

Specimen Stability Information
Specimen Type Temperature
​Varies ​ ​Ambient (preferred)
​Refrigerated
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
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 Clinic Laboratories ​Monday through Friday ​7 days ​Fluorescence In Situ Hybridization (FISH)
Reference Lab
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 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- 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 diagnostic and prognostic chromosome abnormalities observed in patients with AML. When recurrent translocations or inversions are identified, FISH testing can also be used to track response to therapy. 

Reference Range Information

​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.
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​88291 ​1 ​Cyto/Molecular Report
​88271 ​2 ​Cytogenetics DNA Probe
​88271 ​2 ​Probe Set, Count ​As needed
​88271​1​Probe, +1​As needed
​88271​2​Probe, +2​As needed
​88271​3​Probe, +3​As needed
​88274​1​Interphases, <25​As needed
​88274​1​Interphases, 25-99​As needed
​88275​1​Interphases, 100-300​As needed
Synonyms/Keywords
​-5 (monosomy 5)
-7 (monosomy 7)
17p- (17p deletion) or TP53
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)
t(1;22)(p13.3;q13.1q13.2) - RBM15/MKL1
t(1;3)(p36.3;q21.3) - PRDM16/RPN1
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(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
MLL or KMT2A (11q23) rearrangement
t(10;11)(p13;q23) - MLLT10/MLL or AF10/MLL
t(7;11)(p15;p15.4) - HOXA9/NUP98
Test Components

For diagnostic samples, all probes in the initial panel will be performed. The initial panel includes testing for the following abnormalities using the probes listed:

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

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

inv(16), [M4, Eos], MYH11/CBFB

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities:

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(1;22), [M7], RBM15/MKL1*

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

17p-, TP53/D17Z1

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 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).

-When 3 copies of RARA are observed with no fusion with PML, reflex testing using the 5'RARA/3'RARA rearrangement probe set will be performed to identify a potential variant translocation involving RARA; example: t(17;var)( q21;?).

-In the absence of BCR/ABL1 fusion, when an extra signal for ABL1 is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement. 

If the patient is being treated for known abnormalities, indicate which probes should be used. 

If this test is ordered and the laboratory is informed that the patient 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.

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 Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no 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.
 

1. 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.

2. A pathology and/or flow cytometry report may be requested by the Genomics Laboratory to optimize testing and aid in interpretation of results.

Specimen Stability Information
Specimen Type Temperature
​Varies ​ ​Ambient (preferred)
​Refrigerated
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
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).
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

For diagnostic samples, all probes in the initial panel will be performed. The initial panel includes testing for the following abnormalities using the probes listed:

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

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

inv(16), [M4, Eos], MYH11/CBFB

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities:

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(1;22), [M7], RBM15/MKL1*

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

17p-, TP53/D17Z1

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 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).

-When 3 copies of RARA are observed with no fusion with PML, reflex testing using the 5'RARA/3'RARA rearrangement probe set will be performed to identify a potential variant translocation involving RARA; example: t(17;var)( q21;?).

-In the absence of BCR/ABL1 fusion, when an extra signal for ABL1 is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement. 

If the patient is being treated for known abnormalities, indicate which probes should be used. 

If this test is ordered and the laboratory is informed that the patient 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.

Reference Range Information

​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.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday through Friday ​7 days ​Fluorescence In Situ Hybridization (FISH)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​88291 ​1 ​Cyto/Molecular Report
​88271 ​2 ​Cytogenetics DNA Probe
​88271 ​2 ​Probe Set, Count ​As needed
​88271​1​Probe, +1​As needed
​88271​2​Probe, +2​As needed
​88271​3​Probe, +3​As needed
​88274​1​Interphases, <25​As needed
​88274​1​Interphases, 25-99​As needed
​88275​1​Interphases, 100-300​As needed
For most current information refer to the Marshfield Laboratory online reference manual.