Caocci Giovanni, Atzeni Sandra, Usai Monica, La Nasa Giorgio
Hematology Unit, Department of Medical Sciences and Public Health, University of Cagliari, Italy.
Leuk Res Rep. 2017 Dec 27;9:14-15. doi: 10.1016/j.lrr.2017.12.002. eCollection 2018.
JAK2 mutation is found in about 60% of cases of essential thrombocytemia (ET) and represents a driving mutation. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by a low platelet (PLT) count. So far, only 2 reports described ET following ITP. For the first time we analyzed in a patient the JAK2 allele burden at ITP onset occurred 13 years before the ET diagnosis and found the presence of a small clone JAK2 positive clone (3%) raised to 27% in the following years. The association of ET and ITP could suggest similar pathogenetic mechanisms that should be further investigated.
约60%的原发性血小板增多症（ET）病例中可发现JAK2突变，其为驱动性突变。免疫性血小板减少症（ITP）是一种以血小板（PLT）计数低为特征的自身免疫性疾病。到目前为止，仅有2篇报告描述了ITP后发生ET的情况。我们首次分析了1例患者，其在ET诊断前13年发生ITP时的JAK2等位基因负荷，发现存在一个小的JAK2阳性克隆（3%），在随后几年中升至27%。ET与ITP的关联提示可能存在相似的致病机制，有待进一步研究。
