BCR/ABL+9q34, t(9;22)
Test Code
F BCR ABL
Test Synonyms
Philadelphia chromosome, t(9;22)(q34;q11.2)
Associations
Chronic Myelogenous Leukemia (CML), Acute Lymphoblastic Leukemia (ALL), Acute Myeloid Leukemia (AML), Myelodsplastic Syndrome (MDS), Myeloproliferative Disorder (MPD)
Methodology
Fluorescence in situ Hybridization (FISH)
CPT Codes
88367 x3 - Morphometric analysis, in situ hybridization, automated
88368 x3 - Morphometric analysis, in situ hybridization, manual
88368 x3 - Morphometric analysis, in situ hybridization, manual
Turnaround Time
3 days
Specimen Requirements
- 2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
- 1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
- 5 mm^3 fresh tissue in MPLN RPMI media
- 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media
- 10% neutral buffered formalin fixed paraffin embedded tissue
Specimen Stability
- Peripheral blood and bone marrow stable at 18-25°C for 72 hours
- Fresh tissue or FNA at 2-8°C stable for 72 hours
Storage & Handling
- Whole blood and bone marrow, ship ambient
- Fresh tissue, FNA or paraffin embedded tissue, ship in a Styrofoam container with an ice pack (Do not allow ice pack to directly contact sample)
Causes for Rejection
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative
Reference Range
FISH analysis detects presence or absence of t(9;22).
Related Content
Flow Cytometry
Cytogenetics
BCR/ABL t(9;22) major p210 and minor p190 quantitative by PCR
ABL Kinase Mutation Analysis and Gleevec® Resistance
Cytogenetics
BCR/ABL t(9;22) major p210 and minor p190 quantitative by PCR
ABL Kinase Mutation Analysis and Gleevec® Resistance
Description
Chronic myelogeneous leukemia (CML) is a stem cell disorder characterized by the cytogenetic abnormality of t(9;22)(q34;q11.2), which progresses from a chronic phase to an accelerated phase, and/or a blast phase of myelocytic or lymphoid phenotype. This progression is frequently preceded or accompanied by recurring secondary chromosomal abnormalities.
The abnormality, t(9;22)(q34;q11) has been identified in 84% of typical CML, 13% acute lymphoblastic leukemia (ALL), 1% acute myeloid leukemia (AML) and 2% MDS. Ph+ AMLs are increasingly being reported with either M-BCR or m-BCR gene rearrangements, similar to those found with Ph+ ALL lending support to the notion that Ph+ AML are distinct entities and not merely blastic phases of undiagnosed CML. This is further supported by the existence of Ph+ MDS cases.
FISH can detect this translocation in either interphase or metaphase cells.
The abnormality, t(9;22)(q34;q11) has been identified in 84% of typical CML, 13% acute lymphoblastic leukemia (ALL), 1% acute myeloid leukemia (AML) and 2% MDS. Ph+ AMLs are increasingly being reported with either M-BCR or m-BCR gene rearrangements, similar to those found with Ph+ ALL lending support to the notion that Ph+ AML are distinct entities and not merely blastic phases of undiagnosed CML. This is further supported by the existence of Ph+ MDS cases.
FISH can detect this translocation in either interphase or metaphase cells.
References
- Wang et al. (2004). Determination of secondary chromosomal aberrations of chronic myelocytic leukemia. Cancer Genet Cytogenet. 153(1):53.
- Keung et al. (2004). Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia – retrospective study and review of literature. Leukemia Res. 28(6):579.
- Haigh. (2004). Fluorescence in situ hybridization characterization of different cryptic BCR-ABL rearrangements in chronic myeloid leukemia. Cancer Genet Cytogenet. 155(2):132.
- Sinclair PB et al. (2000). Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia. Blood. 95(3):738.
