F BCR ABL
Philadelphia chromosome, t(9;22)(q34;q11.2)
Chronic Myelogenous Leukemia (CML), Acute Lymphoblastic Leukemia (ALL), Acute Myeloid Leukemia (AML), Myelodsplastic Syndrome (MDS), Myeloproliferative Disorder (MPD)
Fluorescence in situ Hybridization (FISH)
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 or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media
Whole blood and bone marrow, ship ambient
Fresh tissue or FNA ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
FISH analysis detects presence or absence of t(9;22).
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.