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HelpTest Code T821Q RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, 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 aspirate
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.
Secondary ID
615905Useful For
Detection of RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients at the time of diagnosis
Minimal residual disease monitoring during the clinical and therapeutic course of these patients
Highlights
This test is a highly sensitive quantitative assay for the detection of translocation t(8;21)(q22;q22); RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients, at the time of diagnosis as well as minimal residual disease monitoring during the clinical and therapeutic course of these patients.
Method Name
Quantitative Real-Time Reverse Transcription Polymerase Chain Reaction (qRT-PCR)
Reporting Name
RUNX1/RUNX1T1, t(8;21), Quant, VSpecimen Type
VariesSpecimen Minimum Volume
Peripheral blood: 8 mL
Bone marrow: 2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Refrigerated (preferred) | 5 days | |
| Ambient | 72 hours |
Reject Due To
| Gross hemolysis | Reject |
| Bone marrow core biopsies Heparin sample Paraffin-embedded bone marrow clots Slides Paraffin shavings Moderately to severely clotted |
Reject |
Clinical Information
RUNX1-RUNX1T1 minimal residual disease (MRD) monitoring in patients with acute myeloid leukemia (AML) with translocation t(8;21)(q22;q22) is useful for evaluating disease response after therapy and identifying individuals with increased risk of relapse. Quantitative real-time reverse transcription polymerase chain reaction testing in neoplasms with known clonal genetic markers can achieve highly sensitive detection of neoplastic cells in blood or bone marrow samples. It is one of the most mature technologies available for this purpose. In this assay, translocation of chromosome 8q22 to 21q22 resulting in fusion of two genes RUNX1 and RUNX1T1 will be evaluated. Quantitative results will provide physicians with an accurate and precise measurement of disease burden to guide patient intervention decisions. This assay can be used for post-therapy MRD monitoring as well as detection of RUNX1-RUNX1T1 fusion in AML patients at the time of diagnosis.
Reference Values
An interpretive report will be provided.
Interpretation
The assay is reported in the form of a normalized ratio of RUNX1-RUNX1T1 fusion transcript to the control gene ABL1 expressed as a percentage, which is an estimate of the level of RUNX1-RUNX1T1 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 RUNX1-RUNX1T1 detected (ie, larger numbers indicate higher relative levels of RUNX1-RUNX1T1 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 1 log or greater increase between 2 positive samples should be repeated on a separate specimen with appropriate time interval to verify the result.
Clinical Reference
1. Corbacioglu A, Scholl C, Schlenk RF, et al: Prognostic impact of minimal residual disease in RUNX1-RUNX1T1-positive acute myeloid leukemia. J Clin Oncol. 2010 Aug 10;28(23):3724-3729. doi: 10.1200/JCO.2010.28.6468
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 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196
3. Tallman MS, Wang ES, Altman JK, et al: Acute Myeloid Leukemia, Version 3.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2019 Jun 1;17(6):721-749. doi: 10.6004/jnccn.2019.0028
4. Schuurhuis GJ, Heuser M, Freeman S, et al: Minimal/measurable residual disease in AML: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 2018 Mar 22;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 Mar 21;121(12):2213-2223. doi: 10.1182/blood-2012-10-462879
6. Lane S, Saal R, Mollee P, et al: A >or=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 Mar;49(3):517-523. doi: 10.1080/10428190701817266
7. Yin JA, O'Brien MA, Hills RK, et al: 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 Oct 4;120(14):2826-2835. doi: 10.1182/blood-2012-06-435669
Method Description
Total RNA is extracted from blood or bone marrow and reverse transcribed to generate complementary DNA. Quantitative real-time polymerase chain reaction is performed, and the data analyzed using dedicated software for relative quantification with calibrator normalization. Results are provided as a normalized relative value of RUNX1-RUNX1T1/ABL1 messenger RNA transcripts with a reproducible analytical sensitivity of 0.01%.(Unpublished Mayo method)
The normalized ratio is a relative quantification calculation as follows:
|
Normalized ratio= |
RUNX1-RUNX1T1 (sample)/ABL1 (sample) |
|
RUNX1-RUNX1T1 (run calibrator)/ABL1 (run calibrator) |
Day(s) Performed
Monday through Saturday
Report Available
4 to 8 daysSpecimen Retention Time
Blood/Bone marrow: 2 weeks; Extracted RNA 3 monthsPerforming 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
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| T821Q | RUNX1/RUNX1T1, t(8;21), Quant, V | 72207-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP061 | Specimen Type | 31208-2 |
| 615906 | Interpretation | 69047-9 |
| 616034 | Signing Pathologist | 18771-6 |