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Prepublished online as a Blood First Edition Paper on May 1, 2003; DOI 10.1182/blood-2003-03-0744.

Submitted March 10, 2003
Accepted April 21, 2003
Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders
Robert Kralovics, Andreas S Buser, Soon-Siong Teo, Joern Coers, Andre Tichelli, Anthonie P C van der Maas, and Radek C Skoda*
Department of Research, Division of Experimental Hematology, Basel University Hospital, Basel, Switzerland
Department of Medicine, Division of Hematology, Basel University Hospital, Basel, Switzerland
Department of Laboratory Medicine, Division of Diagnostic Hematology, Basel University Hospital, Basel, Switzerland
Department of Internal Medicine, Medical Centre Haaglanden, The Hague, The Netherlands
* Corresponding author; email: radek.skoda{at}unibas.ch.
Decreased expression of c-MPL protein in platelets, increased expression of PRV-1 and NFIB mRNA in granulocytes and loss of heterozygosity on chromosome 9p (9pLOH) were described as molecular markers for myeloproliferative disorders (MPD). To assess whether these markers are clustered in subgroups of MPD or represent independent phenotypic variations, we simultaneously determined their status in a cohort of MPD patients. Growth of erythropoietin-independent colonies (EEC) was measured for comparison. We observed concordance between EEC and PRV-1 in MPD patients across all diagnostic subclasses, but our results indicate that EEC remain the most reliable auxiliary test for polycythemia vera (PV). In contrast, c-MPL, NFIB and 9pLOH constitute independent variations. Interestingly, decreased c-MPL and elevated PRV-1 were also observed in patients with hereditary thrombocythemia (HT) who carry a mutation in the thrombopoietin (TPO) gene. Thus, altered c-MPL and PRV-1 expression can also arise through a molecular mechanism different from sporadic MPD.

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