Test Code

M BCR ABL

Test Synonyms

Philadelphia Chromosome; major t(9;22) e13/e14(p210), minor t(9;22) e1 (p190)

Associations

Chronic myelogenous leukemia (CML), Acute lymphoblastic leukemia (ALL), Allogeneic bone marrow transplantation, Minimal residual disease (MRD), Molecular remission;

Tyrosine Kinase Inhibitors

Methodology

Quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) for BCR/ABL major t(9;22) e13/e14(p210) and minor t(9;22) e1 (p190) fusion gene transcipts.

Turnaround Time

5-7 days

Specimen Requirements

10.0 mL (min. 9.0 mL) peripheral blood in EDTA
5.0 mL (min. 2.5 mL) bone marrow in EDTA

Specimen Stability

Storage & Handling

Ship peripheral blood and bone marrow at ambient temperature (Do not ship on ice or cold pack)
Please notify us if shipment is to arrive after 1 p.m. Friday or Saturday

Causes for Rejection

Specimen >48 hours old; Specimen clotted; Specimen stored or shipped at incorrect temperature; Specimen in incorrect anticoagulant; Insufficient specimen volume

Reference Range

Positive: major or minor BCR/ABL fusion quantified relative to ABL
Negative: major or minor BCR/ABL fusion not detected, less than 0.001% BCR/ABL

Description

Molecular detection of the BCR/ABL fusion gene transcript (e13a2, e14a2, e1a2) in patients with a Philadelphia (t[(9;22)(q34;q11.2)]) positive leukemia. The translocation is found in >99% of CML patients, ~20% of adult acute lymphoblastic leukemia (ALL), ~5% of pediatric ALL, and ~2% of acute myeloid leukemia (AML).

The primary clinical utilities for BCR/ABL quantitative PCR testing include (1) identfication of fusion gene transcript and determination of baseline level of BCR-ABL expression in newly diagnosed CML patients, and (2) the monitoring of patients for molecular evidence of minimal residual disease (MRD) or molecular remission in response to tyrosine kinase inhibitor (TKI) therapy or allogeneic stem cell transplantation.

References

1. Jabbour E et al. (2008).  Molecular monitoring in chronic myeloid leukemia. Cancer. 112:2112-2118.
2. Jones D, Kamel-Reid S, Bahler D, Dong H, Elenitoba-Johnson K, Press R, Quigley N, Rothberg P, Sabath D, Viswanatha D, Weck K, Zehnder J. (2009). Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia: a report of the Association for Molecular Pathology.J Mol Diagn 11(1):4-11. Epub 2008 Dec 18
3. Quigley NB, Henley DC, Hubbard RA, Laudadio J, Press RD (2008). ABL kinase domain pseudoexon insertion is not uncommon in BCR-ABL transcripts.  J Mol Diagn 10(5):475-6; Epub 2008 Aug 7

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