Harrison C N, Gale R E, Wiestner A C, Skoda R C, Linch D C
Department of Haematology, University College London Medical School.
Br J Haematol. 1998 Sep;102(5):1341-3.
Essential thrombocythaemia (ET) is a condition of unknown aetiology characterized by sustained thrombocytosis in the absence of a detectable systemic cause. Although usually considered a clonal disease affecting myeloid cells, recent data indicate that a significant proportion of patients have polyclonal haemopoiesis. In some patients the thrombopoietin (TPO) levels are normal or raised. Recently a mutation has been described in the TPO gene in familial thrombocythaemia that results in elevated TPO levels. We have therefore screened 51 patients diagnosed with non-familial ET for the presence of this mutation, but it was not detected in any patient. The constitutional presence of this mutation is therefore unlikely to contribute to the pathogenesis of ET.
原发性血小板增多症（ET）是一种病因不明的疾病，其特征是在没有可检测到的全身性病因的情况下持续出现血小板增多。虽然通常被认为是一种影响髓系细胞的克隆性疾病，但最近的数据表明，相当一部分患者存在多克隆造血。在一些患者中，血小板生成素（TPO）水平正常或升高。最近在家族性血小板增多症的TPO基因中发现了一种突变，该突变导致TPO水平升高。因此，我们对51例诊断为非家族性ET的患者进行了该突变的筛查，但未在任何患者中检测到。因此，这种突变的固有存在不太可能导致ET的发病机制。
