Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders.
Decreased expression of c-MPL protein in platelets, increased expression of polycythemia rubra vera 1 (PRV-1) and nuclear factor I-B (NFIB) mRNA in granulocytes, and loss of heterozygosity on chromosome 9p (9pLOH) were described as molecular markers for myeloproliferative disorders (MPDs). To assess whether these markers are clustered in subgroups of MPDs or represent independent phenotypic variations, we simultaneously determined their status in a cohort of MPD patients. Growth of erythropoietin-independent colonies (EECs) was measured for comparison. We observed concordance between EECs and PRV-1 in MPD patients across all diagnostic subclasses, but our results indicate that EECs 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 also were observed in patients with hereditary thrombocythemia (HT) who carry a mutation in the thrombopoietin (TPO) gene. Thus, altered c-MPL and PRV-1 expression also can arise through a molecular mechanism different from sporadic MPD.
Kralovics
Robert
R
Department of Research, Experimental Hematology, Basel University Hospitals, Hebelstrasse 20, 4031 Basel, Switzerland.
Buser
Andreas S
AS
Teo
Soon-Siong
SS
Coers
Jorn
J
Tichelli
Andre
A
van der Maas
Anthonie P C
AP
Skoda
Radek C
RC
D002908:Chronic Disease; D015331:Cohort Studies; D004921:Erythropoietin; D058851:GPI-Linked Proteins; D006801:Humans; D007519:Isoantigens; D019656:Loss of Heterozygosity; D008562:Membrane Glycoproteins; D018895:Microsatellite Repeats; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics*; D051839:NFI Transcription Factors; D009363:Neoplasm Proteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D018121:Receptors, Cytokine / Q000235:genetics; D053628:Receptors, Thrombopoietin
C407242:CD177 protein, human; D058851:GPI-Linked Proteins; D007519:Isoantigens; D008562:Membrane Glycoproteins; D051839:NFI Transcription Factors; C110754:NFIB protein, human; D009363:Neoplasm Proteins; D011506:Proteins; D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; D004921:Erythropoietin; C082218:MPL protein, human