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)
5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
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.