Kralovics Robert, Buser Andreas S, Teo Soon-Siong, Coers Jorn, Tichelli Andre, van der Maas Anthonie P C, Skoda Radek C
Department of Research, Experimental Hematology, Basel University Hospitals, Hebelstrasse 20, 4031 Basel, Switzerland.
Blood. 2003 Sep 1;102(5):1869-71. doi: 10.1182/blood-2003-03-0744. Epub 2003 May 1.
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.
血小板中c-MPL蛋白表达降低、粒细胞中真性红细胞增多症1（PRV-1）和核因子I-B（NFIB）mRNA表达增加以及9号染色体p臂杂合性缺失（9pLOH）被描述为骨髓增殖性疾病（MPD）的分子标志物。为了评估这些标志物是聚集在MPD的亚组中还是代表独立的表型变异，我们在一组MPD患者中同时测定了它们的状态。为作比较，检测了不依赖促红细胞生成素的集落（EEC）生长情况。我们观察到在所有诊断亚类的MPD患者中，EEC与PRV-1之间存在一致性，但我们的结果表明，EEC仍然是真性红细胞增多症（PV）最可靠的辅助检测方法。相比之下，c-MPL、NFIB和9pLOH构成独立变异。有趣的是，在血小板生成素（TPO）基因发生突变的遗传性血小板增多症（HT）患者中也观察到c-MPL降低和PRV-1升高。因此，c-MPL和PRV-1表达改变也可能通过不同于散发性MPD的分子机制产生。
