Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group. At present, modern diagnostic techniques, primarily genetic, facilitate the identification of the biology of these diseases. The key genes areJAK2,MPL, andCALR, namely, driver mutations, which are present in approximately 90% of patients with suspected MPN. Moreover, there are more than 20 other mutations that affect the development of these hematological malignancies, as evidenced by a review of the literature. The pathogenic mechanism of MPNs is characterized by the dysregulation of the JAK/STAT signaling pathway (JAK2,MPL,CALR), DNA methylation (TET2,DNMT3A,IDH1/2), chromatin structure (ASXL1,EZH2), and splicing (SF3B1,U2AF2,SRSF2). Although rare, myeloproliferative neoplasms can involve young patients and pose unique challenges for clinicians in diagnosis and therapy. The paper aims to review the biological markers of MPNs in pediatric populations—a particular group of patients that has been poorly studied due to the low frequency of MPN diagnosis.
骨髓增殖性肿瘤是一类以髓系细胞异常增殖为特征的克隆性造血系统恶性肿瘤。此类克隆性骨髓疾病在儿科患者中极为罕见。据统计，成人发病率约为儿童的100倍，因此相关研究主要聚焦于成人群体。目前，现代诊断技术（尤其是基因检测技术）有助于揭示这类疾病的生物学特征。约90%疑似MPN患者存在JAK2、MPL和CALR等关键驱动基因突变。文献综述表明，另有超过20种基因突变参与这些血液恶性肿瘤的发生发展。MPN的致病机制主要表现为JAK/STAT信号通路（JAK2、MPL、CALR）、DNA甲基化（TET2、DNMT3A、IDH1/2）、染色质结构（ASXL1、EZH2）及RNA剪接（SF3B1、U2AF2、SRSF2）的调控异常。尽管罕见，骨髓增殖性肿瘤亦可累及青少年患者，其诊断与治疗对临床医师构成独特挑战。本文旨在综述儿科MPN患者的生物学标志物——由于该疾病在儿童群体中诊断率极低，这一特殊患者群体的研究长期处于匮乏状态。
Biological Markers of Myeloproliferative Neoplasms in Children, Adolescents and Young Adults
肿瘤(癌症)患者之家