MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count.
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations.
Steensma
David P
DP
Division of Hematology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Steensma.david@mayo.edu
Caudill
Jonathan S C
JS
Pardanani
Animesh
A
McClure
Rebecca F
RF
Lasho
Terra L
TL
Tefferi
Ayalew
A
D000369:Aged, 80 and over; D000753:Anemia, Refractory / Q000097:blood / Q000145:classification / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000097:blood / Q000235:genetics*; D000818:Animals; D004252:DNA Mutational Analysis; D004789:Enzyme Activation / Q000235:genetics; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010976:Platelet Count; D017354:Point Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics*
D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2