Triple-negative myeloproliferative neoplasms (TN-MPN) are diseases characterized by absence of the three driver mutations in JAK2, CALR, or MPL, but still exhibit histological and phenotypic features sufficient to diagnose myeloproliferative neoplasms (MPN). Approximately 10% to 20% of essential thrombocythemia (ET) and 5% to 10% of primary myelofibrosis (PMF) cases are reported to be triple negative. TN-MPN may carry non-classical driver mutations at JAK2 or MPL, or other gene mutations, including somatic mutations of chromatin structure, epigenetic modifiers (TET2, IDH1/2), splicing factors (SF3B1, SRSF2, U2AF1, ZRSR2), and cytokine signaling regulators (CBL, SH2B3), etc., and there is evidence of clonal hematopoiesis. This article reviews the latest research progress in the pathogenesis, diagnosis, clinical features, prognosis and treatment of TN-MPN.
题目: BCR::ABL阴性的三阴性骨髓增殖性肿瘤.
摘要: 三阴性骨髓增殖性肿瘤（TN-MPN）是不存在JAK2、CALR和MPL 3种驱动基因突变、但仍然表现出足以诊断骨髓增殖性肿瘤（MPN）的组织学和表型特征的疾病。大约10%-20%的原发性血小板增多症（ET）和5%-10%的原发性骨髓纤维化（PMF）病例为三阴性。TN-MPN可能携带位于JAK2或MPL的非经典位点驱动突变，或者存在其他的基因突变，包括染色质结构、表观遗传学修饰物（TET2、IDH1/2）、剪接因子（SF3B1、SRSF2、U2AF1、ZRSR2）、细胞因子信号传导调节因子（CBL、SH2B3）等体细胞突变，并具有克隆性造血的证据。本文就TN-MPN的发病机制、诊断、临床特征及预后和治疗的最新研究进展作一综述。.
Keywords: triple-negative; myeloproliferative neoplasms; gene mutation; NGS(Second generation sequencing).