Elsayed Ahmed G, Ranavaya Aeesha, Jamil Muhammad Omer
Hematology Oncology Department, Promedica/University of Toledo, Toledo, OH.
Hematology/Oncology Department, Joan C. Edwards School of Medicine, Marshall University, WV, USA.
Hematol Rep. 2019 Mar 12;11(1):7868. doi: 10.4081/hr.2019.7868. eCollection 2019 Feb 19.
Essential thrombocythemia (ET) is a clonal bone marrow disease, characterized by increased production of platelets along with other clinical and bone marrow findings. Most patients with ET will have a somatic mutation in one of the known gene locations of , or that can upregulate the JAK-STAT pathway. mutation is present in 5% of cases with the most common mutations being and In this report we describe 2 cases of patients with clinical and laboratory picture of ET. One patient carried mutation which is previously unreported in the adult population but has been shown to be a gain-of-function mutation. The other patient carried mutation which is not known to be of clinical importance and has not been previously reported.
原发性血小板增多症（ET）是一种克隆性骨髓疾病，其特征是血小板生成增加以及其他临床和骨髓表现。大多数ET患者在已知的 、 或 基因位置之一会发生体细胞突变，这些突变可上调JAK-STAT信号通路。5%的病例存在 突变，最常见的突变是 和 。在本报告中，我们描述了2例具有ET临床和实验室表现的患者。1例患者携带 突变，该突变在成年人群中此前未被报道，但已被证明是一种功能获得性突变。另一例患者携带 突变，该突变的临床重要性未知且此前未被报道。
