Detecting a neoplastic clone associated with the recurrent chromosome abnormalities seen in patients with acute myeloid leukemia (AML) or other myeloid malignancies using a client specified probe set
An adjunct to conventional chromosome studies in patients with AML
Evaluating specimens in which standard cytogenetic analysis is unsuccessful
Test Id | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
AMLMB | Probe, Each Additional (AMLMF) | No, (Bill Only) | No |
This test includes a charge for the probe application, analysis and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
If the patient has known chromosome abnormalities identified in the diagnostic study, indicate the abnormality and which probes should be used.
When specified, any of the following probes will be performed:
t(8;21), [M2], RUNX1T1/RUNX1
Reflex: t(3;21)(q26.2;q22) MECOM/RUNX1
t(15;17), [M3], PML/RARA
Reflex: 17q21 rearrangement, RARA break-apart
11q23 rearrangement, [M0-M7], MLL (KMT2A)
Reflex: t(4;11)(q21;q23), AFF1/MLL
Reflex: t(6;11)(q27;q23), MLLT4(AFDN)/MLL
Reflex: t(9;11)(p22;q23), MLLT3/MLL
Reflex: t(10;11)(p13;q23), MLLT10/MLL
Reflex: t(11;16)(q23;p13.3), MLL/CREBBP
Reflex: t(11;19)(q23;p13.1), MLL/ELL
Reflex: t(11;19)(q23;p13.3), MLL/MLLT1
inv(16), [M4, Eos], MYH11/CBFB
Reflex: 16q22 rearrangement, CBFB break-apart
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98 break-apart
Reflex: t(7;11)(p15;p15.4), HOXA9/NUP98
12p13 rearrangement, ETV6 break-apart
Reflex: t(7;12)(q36;p13), MNX1/ETV6
t(6;9), [M2,M4], DEK/NUP214
inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM
Reflex: t(1;3)(p36;q21), PRDM16/RPN1
Reflex: t(3;21)(q26.2;q22), MECOM/RUNX1
t(8;16), [M4,M5], KAT6A/CREBBP
t(1;22), [M7], RBM15/MKL1
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
17p-, TP53/D17Z1
t(9;22), BCR/ABL1
Reflex: 9q34 rearrangement, ABL1 break-apart
t(3;5), [M2, 4, 6], MLF1/NPM1
The following algorithms are available:
Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
Fluorescence In Situ Hybridization (FISH)
-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
MLL or KMT2A (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(4;11)(q21;q23) - AFF1/MLL or AF4/MLL
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
NUP98 (11p15.2) rearrangement
t(7;11)(p15;p15.4) - HOXA9/NUP98
t(7;12)(q26;p13) - MNX1/ETV6
ETV6 (12p13) rearrangement
This test includes a charge for the probe application, analysis and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
If the patient has known chromosome abnormalities identified in the diagnostic study, indicate the abnormality and which probes should be used.
When specified, any of the following probes will be performed:
t(8;21), [M2], RUNX1T1/RUNX1
Reflex: t(3;21)(q26.2;q22) MECOM/RUNX1
t(15;17), [M3], PML/RARA
Reflex: 17q21 rearrangement, RARA break-apart
11q23 rearrangement, [M0-M7], MLL (KMT2A)
Reflex: t(4;11)(q21;q23), AFF1/MLL
Reflex: t(6;11)(q27;q23), MLLT4(AFDN)/MLL
Reflex: t(9;11)(p22;q23), MLLT3/MLL
Reflex: t(10;11)(p13;q23), MLLT10/MLL
Reflex: t(11;16)(q23;p13.3), MLL/CREBBP
Reflex: t(11;19)(q23;p13.1), MLL/ELL
Reflex: t(11;19)(q23;p13.3), MLL/MLLT1
inv(16), [M4, Eos], MYH11/CBFB
Reflex: 16q22 rearrangement, CBFB break-apart
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98 break-apart
Reflex: t(7;11)(p15;p15.4), HOXA9/NUP98
12p13 rearrangement, ETV6 break-apart
Reflex: t(7;12)(q36;p13), MNX1/ETV6
t(6;9), [M2,M4], DEK/NUP214
inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM
Reflex: t(1;3)(p36;q21), PRDM16/RPN1
Reflex: t(3;21)(q26.2;q22), MECOM/RUNX1
t(8;16), [M4,M5], KAT6A/CREBBP
t(1;22), [M7], RBM15/MKL1
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
17p-, TP53/D17Z1
t(9;22), BCR/ABL1
Reflex: 9q34 rearrangement, ABL1 break-apart
t(3;5), [M2, 4, 6], MLF1/NPM1
The following algorithms are available:
Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
Varies
This test is intended for instances when limited acute myeloid leukemia (AML) fluorescence in situ hybridization (FISH) probes are needed based on specific abnormalities or on abnormalities identified in the diagnostic sample. The FISH probes to be analyzed must be specified on the request, otherwise test processing may be delayed in order to determine the intended analysis. If specific probes are not included with this test order, the test may be canceled and automatically reordered by the laboratory as either AMLAF / Acute Myeloid Leukemia (AML), FISH, Adult, Varies or AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies depending on the age of the patient.
If the entire AML FISH panel is preferred for an adult patient, order AMLAF / Acute Myeloid Leukemia (AML), FISH, Adult, Varies.
If the entire AML FISH panel is preferred for a pediatric patient, order AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies.
At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and a complete AML FISH panel (either AMLAF or AMLPF) should be performed.
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.
For testing paraffin embedded tissue samples from patients with myeloid sarcoma, order MSTF / Myeloid Sarcoma, FISH, Tissue.
Advise Express Mail or equivalent if not on courier service.
2. A reason for testing and a flow cytometry and/or a bone marrow pathology report, if available, should be submitted with each specimen. The laboratory will not reject testing if this information is not provided, however appropriate testing and/or interpretation may be compromised or delayed in some instances. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Question ID | Description | Answers |
---|---|---|
GC097 | Reason for Referral | |
GC098 | Probes Requested | |
GC099 | Specimen |
Whole blood ACD Bone marrow ACD Whole blood Na Hep Bone marrow Na Hep Whole blood EDTA Bone marrow EDTA |
Submit only 1 of the following specimens:
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.
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Blood: 2 mL
Bone Marrow: 1 mL
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Refrigerated |
Detecting a neoplastic clone associated with the recurrent chromosome abnormalities seen in patients with acute myeloid leukemia (AML) or other myeloid malignancies using a client specified probe set
An adjunct to conventional chromosome studies in patients with AML
Evaluating specimens in which standard cytogenetic analysis is unsuccessful
This test includes a charge for the probe application, analysis and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
If the patient has known chromosome abnormalities identified in the diagnostic study, indicate the abnormality and which probes should be used.
When specified, any of the following probes will be performed:
t(8;21), [M2], RUNX1T1/RUNX1
Reflex: t(3;21)(q26.2;q22) MECOM/RUNX1
t(15;17), [M3], PML/RARA
Reflex: 17q21 rearrangement, RARA break-apart
11q23 rearrangement, [M0-M7], MLL (KMT2A)
Reflex: t(4;11)(q21;q23), AFF1/MLL
Reflex: t(6;11)(q27;q23), MLLT4(AFDN)/MLL
Reflex: t(9;11)(p22;q23), MLLT3/MLL
Reflex: t(10;11)(p13;q23), MLLT10/MLL
Reflex: t(11;16)(q23;p13.3), MLL/CREBBP
Reflex: t(11;19)(q23;p13.1), MLL/ELL
Reflex: t(11;19)(q23;p13.3), MLL/MLLT1
inv(16), [M4, Eos], MYH11/CBFB
Reflex: 16q22 rearrangement, CBFB break-apart
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98 break-apart
Reflex: t(7;11)(p15;p15.4), HOXA9/NUP98
12p13 rearrangement, ETV6 break-apart
Reflex: t(7;12)(q36;p13), MNX1/ETV6
t(6;9), [M2,M4], DEK/NUP214
inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM
Reflex: t(1;3)(p36;q21), PRDM16/RPN1
Reflex: t(3;21)(q26.2;q22), MECOM/RUNX1
t(8;16), [M4,M5], KAT6A/CREBBP
t(1;22), [M7], RBM15/MKL1
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
17p-, TP53/D17Z1
t(9;22), BCR/ABL1
Reflex: 9q34 rearrangement, ABL1 break-apart
t(3;5), [M2, 4, 6], MLF1/NPM1
The following algorithms are available:
Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
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 with associated clinical significance. 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 MLLT3- t(9;11), MLLT4- t(6;11), MLLT10- t(10;11), and ELL- t(11;19p13.1).
Other recurrent chromosome abnormalities associated with AML include inv(3) or t(3;3), t(6;9) and t(9;22). In addition, 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.
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.
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 sample type for this fluorescence in situ hybridization (FISH)test. If bone marrow is not available, a blood specimen may be used if there are neoplastic cells in the blood specimen (as verified by a hematopathologist).
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. Each probe set was evaluated to confirm the probe set detected the abnormality it was designed to detect.
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. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumour of Haematopoietic and Lymphoid Tissues. 4th ed. 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;129(4):424-447 doi: 10.1182/blood-2016-08-733196
This test is performed using commercially available and laboratory-developed probes .Deletion or monosomy of chromosomes 5, 7, and 17 are detected using enumeration strategy probes. Rearrangements involving ABL1, MLL (KMT2A), CBFB, and RARA are detected using a dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion fluorescence in situ hybridization (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(1;22), t(9;22), t(7;11), t(7;12) and in reflex testing when rearrangements of the MLL gene are detected. For enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)
Monday through Friday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
88271x2, 88275x1, 88291x1- FISH Probe, Analysis, Interpretation; 1 probe set
88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
AMLMF | AML, Specified FISH | In Process |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
614204 | Result Summary | 50397-9 |
614205 | Interpretation | 69965-2 |
614206 | Result Table | 93356-4 |
614207 | Result | 62356-1 |
GC097 | Reason for Referral | 42349-1 |
GC098 | Probes Requested | 78040-3 |
GC099 | Specimen | 31208-2 |
614208 | Source | 31208-2 |
614209 | Method | 85069-3 |
614210 | Additional Information | 48767-8 |
614211 | Disclaimer | 62364-5 |
614212 | Released By | 18771-6 |
Change Type | Effective Date |
---|---|
New Test | 2021-12-12 |