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Abstract
Essential thrombocythemia (ET) is a myeloproliferative disorder, characterized by sustained thrombocytosis. Diagnosis requires the elimination of all known causes of thrombocytosis. ET is believed to be a clonal disorder, and we investigated the frequency of a clonal hematopoiesis in this disease with the aim of using this as a positive diagnostic criterion. However, a non-random inactivation pattern can be encountered in normal females which mimics clonal hematopoiesis. In addition, the percentage of normal females with skewed lyonization seems higher using techniques based on the difference in DNA methylation, compared to G6PD enzyme polymorphism. Recently, new techniques based on transcript analysis have been developed. We report here the results of clonality studies of hematopoiesis in 53 ET patients using two different techniques based on DNA and RNA polymorphisms, and T-lymphocytes as a control tissue of lyonization. The majority of ET patients showed monoclonal hematopoiesis in the presence of polyclonality of T-lymphocytes. Because all ET patients did not show the same clonal pattern of hematopoiesis, we searched for inappropriate secretion of thrombopoietin (TPO) in patients with polyclonal disease. This assay was performed in 48 patients, of whom 9 showed polyclonal hematopoiesis and 27 monoclonal hematopoiesis. We found no difference in TPO levels between ET patients and normal controls, nor between patients with polyclonal hematopoiesis and those with monoclonal hematopoiesis. Our results confirm the high frequency of monoclonal hematopoiesis in ET, the usefulness of RNA markers, and the possibility of using T-lymphocytes as a control tissue for X-chromosome inactivation patterns. On the other hand, TPO levels are not decreased even in ET patients with high platelet counts, suggesting an increased production or decreased clearance of TPO in this disease.