PRV-1, erythroid colonies and platelet Mpl are unrelated to thrombosis in essential thrombocythaemia.
Females with the monoclonal type of essential thrombocythaemia (ET), based on the X-chromosome inactivation pattern (XCIP), have previously been shown to present a higher incidence of thrombosis than polyclonal ones. We aimed to assess correlations between XCIP, thrombosis, and three epigenetic markers of ET, namely PRV-1 overexpression, endogenous erythroid colony (EEC) formation, and reduced platelet Mpl content. Fifty-three (60%) of 88 subjects studied had monoclonal myelopoiesis and presented a 32% incidence of major thrombosis compared with 6% of polyclonal subjects (P = 0.009). The frequency of abnormalities of PRV-1, EEC, or Mpl was similar in monoclonal and polyclonal subjects (respectively, 28%, 48%, 75%, and 37%, 27%, 63%), and none of them correlated with thrombosis. We conclude that the exploited epigenetic markers constitute independent phenotypic variations and are not clustered according to monoclonality of myelopoiesis in ET; none of them could serve as a surrogate marker of thrombotic risk in male subjects with ET.
Vannucchi
Alessandro M
AM
Department of Haematology, University of Florence, Florence, Italy. a.vannucchi@dac.unifi.it
Grossi
Alberto
A
Pancrazzi
Alessandro
A
Antonioli
Elisabetta
E
Guglielmelli
Paola
P
Balestri
Francesca
F
Biscardi
Monica
M
Bulgarelli
Simona
S
Longo
Giovanni
G
Graziano
Claudio
C
Gugliotta
Luigi
L
Bosi
Alberto
A
D000328:Adult; D001792:Blood Platelets / Q000378:metabolism*; D002999:Clone Cells; D004303:Dosage Compensation, Genetic; D015672:Erythroid Precursor Cells / Q000473:pathology*; D005260:Female; D058851:GPI-Linked Proteins; D015870:Gene Expression; D006801:Humans; D007519:Isoantigens / Q000235:genetics*; D016015:Logistic Models; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D038042:Myelopoiesis; D011237:Predictive Value of Tests; D011956:Receptors, Cell Surface; D013920:Thrombocythemia, Essential / Q000097:blood* / Q000235:genetics; D013926:Thrombopoietin / Q000378:metabolism*; D013927:Thrombosis / Q000097:blood
C407242:CD177 protein, human; D058851:GPI-Linked Proteins; D007519:Isoantigens; D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; D013926:Thrombopoietin