The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients.
Recently, a Jak2V617F mutation has been described in the vast majority of patients with polycythemia vera (PV) as well as in subsets of patients with essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). The question arises whether this mutation is observed in those patients with ET and IMF who have also displayed previously described molecular markers, notably the ability to form endogenous erythroid colonies (EECs), overexpression of polycythemia rubra vera 1 (PRV-1), and decreased c-Mpl expression. We therefore analyzed the Janus kinase 2 (Jak2) DNA sequence, EEC growth, PRV-1 expression, and c-Mpl (myeloproliferative) levels in a cohort of 78 myeloproliferative disorder (MPD) patients (42 ET, 22 PV, and 14 IMF). Presence of the Jak2V617F mutation was very highly correlated with PRV-1 overexpression and the ability to form EECs in all 3 subtypes of MPDs (P < .001). (
Goerttler
Philipp S
PS
Department of Experimental Anaesthesiology, University Hospital Freiburg, Breisacher Str. 66, 79106 Freiburg, Germany.
Steimle
Cordula
C
März
Edith
E
Johansson
Peter L
PL
Andreasson
Björn
B
Griesshammer
Martin
M
Gisslinger
Heinz
H
Heimpel
Hermann
H
Pahl
Heike L
HL
D049109:Cell Proliferation; D015331:Cohort Studies; D041905:Erythroid Cells / Q000166:cytology* / Q000378:metabolism*; D058851:GPI-Linked Proteins; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007519:Isoantigens / Q000235:genetics / Q000378:metabolism*; D053614:Janus Kinase 2; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000145:classification / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics / Q000378:metabolism*; D014633:Valine / Q000235:genetics* / Q000378:metabolism
C407242:CD177 protein, human; D058851:GPI-Linked Proteins; D007519:Isoantigens; D008562:Membrane Glycoproteins; D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D014633:Valine