TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: PMLR    
PML/RARA Quantitative, PCR, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of acute promyelocytic leukemia (APL)

 

Detection of residual or recurrent APL

 

Monitoring the level of promyelocytic leukemia/retinoic acid receptor alpha (PML/RARA) in APL patients

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Acute promyelocytic leukemia (APL) accounts for 5% to 10% of acute myeloid leukemia, and generally has a good prognosis with current treatment protocols. APL cells contain a fusion gene comprised of the downstream sequences of the retinoic acid receptor alpha gene (RARA) fused to the promoter region and upstream sequences of one of several genes, the most common (>80%) being the promyelocytic leukemia gene (PML). The fusion gene is designated PML/RARA and may be seen in a karyotype as t(15;17)(q22;q12). Messenger RNA (PML/RARA) produced from the fusion gene can be detected using a PCR-based assay, and indicates the presence of neoplastic cells. The PCR-based assay has greater sensitivity than standard methods such as morphology review, karyotyping, or FISH.

 

Recent studies have indicated that sensitive monitoring is important because the majority of patients who remain PCR positive, or become PCR positive again following treatment, will relapse and likely benefit from early intervention for residual/recurrent disease. This quantitative assay allows PML/RARA levels to be monitored rather than simply detecting the presence or absence of disease.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

 

If positive, a value representing a ratio of PML-RARA fusion transcript to the control gene ABL1 expressed as a percentage will be reported.

Interpretation Provides information to assist in interpretation of the test results

The assay is reported in the form of a normalized ratio of promyelocytic leukemia/retinoic acid receptor alpha (PML-RARA) fusion transcript to the control gene ABL1 expressed as a percentage, which is an estimate of the level of PML/RARA 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 PML/RARA detected (ie, larger numbers indicate higher levels of PML/RARA and smaller numbers indicate lower levels). A relative expression value minimizes variability in the RNA levels measured in separate specimens tested at different times. Although a quantitative PCR assay is performed, the precision of the assay is such that results must be considered semiquantitative, and it is recommended that only log changes be considered significant. Critical results, such as a change in the status of positivity, should be repeated on a separate specimen to verify the result.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Promyelocytic leukemia/retinoic acid receptor alpha (PML/RARA) levels can only be compared reliably if tested in the same laboratory using the same procedure each time.

 

This assay will only detect PML/RARA RNA and will not detect RNA from the less common RARA fusion genes.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Grimwade D, Lo Coco F: Acute promyelocytic leukemia: a model for the role of molecular diagnosis and residual disease monitoring in directing treatment approach in acute myeloid leukemia. Leukemia 2002 October;16(10):1959-1973

2. Adams J, Nassiri M: Acute Promyelocytic Leukemia A Review and Discussion of Variant Translocations. Arch Pathol Lab Med 2015;139:1308-1313

3. Kayser S, Schlenk RF, Platzbecker U: Management of patients with acute promyelocytic leukemia. Leukemia 2018;32:1277-1294

4. Ablain J, de The H: Revisiting the differentiation paradigm in acute promyelocytic leukemia. Blood 2011;117(22):5795-5802

Special Instructions Library of PDFs including pertinent information and forms related to the test