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Blood, 1 April 2008, Vol. 111, No. 7, pp. 3863-3866.
Prepublished online as a Blood First Edition Paper on January 14, 2008; DOI 10.1182/blood-2007-09-111971.
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Submitted September 10, 2007
Accepted December 30, 2007
Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations
Sai Li, Robert Kralovics, Gennaro De Libero, Alexandre Theocharides, Heinz Gisslinger, and Radek C Skoda*
Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Medical University of Vienna, and the Center for Molecular Med. (CeMM), Austrian Academy of Sciences, Vienna, Austria
Department of Research, Experimental Immunology, University Hospital Basel, Basel, Switzerland
Division of Hematology, University Hospital Basel, Basel, Switzerland
* Corresponding author; email: radek.skoda{at}unibas.ch.
We studied the lineage distribution of JAK2 mutations in peripheral blood of 8 polycythemia vera (PV) patients with exon 12 mutations and in 21 PV patients with JAK2-V617F. Using a quantitative allele discrimination assay, we detected exon 12 mutations in purified granulocytes, monocytes and platelets of 8 patients studied, but lymphoid cells showed variable involvement and the mutation was absent in T cells. Endogenous erythroid colonies (EECs) grew in all patients analyzed. One patient displayed erythroid colonies homozygous for the exon 12 mutation with evidence for mitotic recombination on chromosome 9p. In some patients with exon 12 mutations or JAK2-V617F, a proportion of EECs were negative for both JAK2 mutations. One patient carried two independent clones: one with an exon 12 mutation and a second with JAK2-V617F. The finding of clonal heterogeneity is compatible with the hypothesis that additional clonal events are involved in the pathogenesis of PV.
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