philadelphia chromosome (Ph 22q-) - Answers chromosomal abnormality that is associated
with chronic myeloid leukemia (CML)
-ABL gene on the long arm of chromosome 9 is translocated into the BCR gene on the long arm
of chromosome 22 producing a fusion ABL-BCR gene
-produces a shortened chromosome 22
JAK2 mutation (JAK2 V617F) - Answers point mutation that is associated with Polycythemia
Vera (PV) and other diseases
-point mutation in position 617 of JAK2 gene replaces Valine with Phenylalanine
myeloproliferative disorders - Answers -chronic myeloid leukemia (CML)
-polycythemia vera (PV)
-essential thrombocytopenia (ET)
-primary myelofibrosis (PMF)
-chronic neutrophilic leukemia (CNL)
-chronic myelomonocytic leukemia (CMML)
-juvenile myelomonocytic leukemia (JMML)
WHO criteria polycythemia vera (PV) - Answers Major:
-increased Hgb: >16.5 g/dL men, >16 g/dL women
-increased Hct or RCM: >49% men, >48% women
-bone marrow biopsy: hyperceullarity and panmyelosis
-JAK 2 mutation: JAK2-V617F or JAK2 exon 2 mutation
Minor:
-decreased EPO levels
red cell mass - Answers RCM
chronic myeloid leukemia (CML) - Answers -genetic mutation (philadelphia chromosome)
causes clonal overproduction of cells in the myeloid line, leading to neutrophilia with immature