F MPD
+8. BCR/ABL t(9;22), 13q-, 20q-
Myeloproliferative disorder (MPD)
Fluorescence in situ Hybridization (FISH)
3-5 days
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; Specimens exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
See report
A group of pre-leukemic diseases, myeloproliferative disorders are characterized by a clonal expansion of one or more lineages of the myelo-erythroid series of which polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis are the main malignant diseases formed. 30-40% of patients with polycythaemia vera and idiopathic myelofibrosis have chromosomal abnormalities and these indicate a poor prognosis, while patients with essential thrombocythaemia rarely have chromosomal abnormalities. Acquired changes seen at diagnosis include del(20q), del(13q), trisomy 8 and 9 and duplication of segments of 1q.
The V617F mutation in the JAK2 gene has also been found in ~97% of patients with polycythemia vera, ~57% of patients with essential thrombocythemia and ~50% of patients with myelofibrosis. JAK2 is offered as a reflex test in “Philadelphia negative” (t[9;22]) chronic myeloproliferative disorders.