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HelpTest Code IN16Q CBFB::MYH11 Inversion(16), Quantitative Detection and Minimal Disease Risk Monitoring, qRT-PCR, Varies
Shipping Instructions
1. Refrigerated specimens must arrive within 5 days of collection, and ambient specimens must arrive within 3 days of collection.
2. Collect and package specimen as close to shipping time as possible.
Necessary Information
The following information is required:
1. Pertinent clinical history
2. Date of collection
3. Specimen source (blood or bone marrow)
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)
Specimen Volume: 10 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send an Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Useful For
Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML)
Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML
Method Name
Quantitative Real-Time Reverse Transcription Polymerase Chain Reaction (qRT-PCR)
Reporting Name
Inv(16); CBFB-MYH11, Quant, VSpecimen Type
VariesSpecimen Minimum Volume
Blood: 8 mL; Bone marrow: 2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Refrigerated (preferred) | 5 days | |
| Ambient | 72 hours |
Reference Values
An interpretive report will be provided.
Interpretation
The assay is reported in the form of a normalized ratio of CBFB::MYH11 fusion transcript to the control gene ABL1 expressed as a percentage, which is an estimate of the level of CBFB::MYH11 fusion RNA present in the specimen, expressed in relation to the level of RNA from an internal control gene (ABL1). The normalized ratio has no units but is directly related to the level of CBFB::MYH11 detected (ie, larger numbers indicate higher relative levels of CBFB::MYH11, and smaller numbers indicate lower levels). A relative expression value minimizes variability in the RNA levels and cell numbers measured in separate specimens tested at different times.
The precision of the quantitative assay is excellent, but interassay variability can occur such that result changes should not be considered significant if 2 single measurements differ by less than 0.5 log. More critical results, such as a change in the status of positivity or greater or equal to 1 log increase between 2 positive samples should be repeated on a separate specimen with appropriate time interval to verify the result.
Clinical Reference
1. Krauter J1, Hoellge W, Wattjes MP, et al. Detection and quantification of CBFB/MYH11 fusion transcripts in patients with inv(16)-positive acute myeloblastic leukemia by real-time RT-PCR. Genes Chromosomes Cancer. 2001;30(4):342-348. doi:10.1002/gcc.1100
2. 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
3. O'Donnell MR, Tallman MS, Abboud CN, et al. Acute Myeloid Leukemia, Version 3.2017, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2017;15(7):926-957. doi:10.6004/jnccn.2017.0116
4. Schuurhuis GJ, Heuser M, Freeman S, et al. Minimal/measurable residual disease in AML: a consensus document from the European Leukemia Net MRD Working Party. Blood. 2018;131(12):1275-1291. doi:10.1182/blood-2017-09-801498
5. Jourdan E, Boissel N, Chevret S, et al. Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. Blood. 2013;121(12):2213-2223. doi:10.1182/blood-2012-10-462879
6. Lane S, Saal R, Mollee P, et al. A ≥1 log rise in RQ-PCR transcript levels defines molecular relapse in core binding factor acute myeloid leukemia and predicts subsequent morphologic relapse. Leuk Lymphoma. 2008;49(3):517-523. doi:10.1080/10428190701817266
7. Yin JA, O'Brien MA, Hills RK, Daly SB, Wheatley K, Burnett AK. Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trial. Blood. 2012;120(14):2826-2835. doi:10.1182/blood-2012-06-435669
8. Corbacioglu A, Scholl C, Schlenk RF, et al. Prognostic impact of minimal residual disease in CBFB-MYH11-positive acute myeloid leukemia. J Clin Oncol. 2010;28(23):3724-3729. doi: 10.1200/JCO.2010.28.6468
Day(s) Performed
Monday through Saturday
Report Available
4 to 8 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test 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
81401-CBFB-MYH11
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| IN16Q | Inv(16); CBFB-MYH11, Quant, V | 101377-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP057 | Specimen Type | 31208-2 |
| 610267 | Interpretation | 59465-5 |
| 614375 | Signing Pathologist | 19139-5 |