背景:费城阴性骨髓增殖性肿瘤(MPN)在老年人群中最普遍(诊断时的中位年龄超过60岁),在儿科中很少被诊断。因此,我们对临床表现的了解,突变状态,儿科MPN的并发症是有限的。
方法:英文文献(PubMed,Scopus,和谷歌学者)被搜索进行研究,reviews,案例系列,和费城阴性MPNs患者的病例报告(包括原发性血小板增多症,真性红细胞增多症,原发性骨髓纤维化,和纤维化骨髓纤维化)在儿科年龄组(小于18岁)。仅纳入符合世卫组织2008年或2016年MPN标准的研究。我们的目的是描述临床特征,血管和长期并发症,驱动突变的类型,以及小儿MPNs患者的治疗方法。
结果:我们回顾了2008年至2022年的33篇可用的已发表文献,并从总共196名儿科人群中收集了数据。在患者队列中,139例原发性血小板增多症(ET),20例真性红细胞增多症(PV),37例原发性骨髓纤维化(PMF)。诊断每种疾病时的中位年龄各不相同,ET为8.8年,光伏10年,MF的3.6年。两个性别组和所有三种疾病之间的性别患病率略有差异。在超过50%的研究中没有提到出现的症状。我们发现JAK2是所有突变中最普遍的。出血和血栓形成在ET中同样存在,9%的病例并发出血,9%并发血栓形成。PV患者未发生出血事件;MF患儿也未发现血栓形成。2例PV患者和1例ET患者发生AML进展。
结论:考虑到儿科中MPN的罕见性及其与成人相比的不同特征,我们认为需要独特的诊断标准来匹配儿科的不同分子状态.根据我们的评论,儿科MPN并发症的发生率,包括血栓事件,出血,和白血病转化,不同于成年人。
BACKGROUND: Philadelphia-negative myeloproliferative neoplasms (MPN) are most prevalent in the older population (median age at the diagnosis is above 60 years) and rarely diagnosed in pediatrics. Thus, our knowledge about the clinical presentation, mutational status, and complications of MPNs in pediatrics is limited.
METHODS: The literature in English (PubMed, SCOPUS, and Google Scholar) was searched for studies, reviews, case series, and case reports of patients with Philadelphia-negative MPNs (including essential thrombocythemia, polycythemia vera, primary myelofibrosis, and profibrotic myelofibrosis) in the pediatrics age group (less than 18 years). Only studies that fulfilled WHO 2008 or 2016 criteria for MPNs were included. We aimed to describe the clinical characteristics, vascular and long-term complications, types of driver mutations, and treatment approaches in pediatric patients with MPNs.
RESULTS: We reviewed 33 articles of available published literature from 2008 to 2022 and collected data from a total of 196 patients of the pediatric population. Among the cohort of patients, 139 had essential thrombocythemia (ET), 20 had polycythemia vera (PV), and 37 had primary myelofibrosis (PMF). The median age at the time of diagnosis for each disease varied, with 8.8 years for ET, 10 years for PV, and 3.6 years for MF. There was a slight difference in gender prevalence between both gender groups and all three diseases. The presenting symptoms were not mentioned in more than 50% of studies. We found that JAK2 was the most prevalent among all mutations. Both bleeding and thrombosis were present equally in ET, with 9% of cases complicated by bleeding and 9% complicated by thrombosis. Hemorrhagic events did not occur in patients with PV; thrombosis in children with MF was also not found. The progression into AML occurred in two patients with PV and one with ET.
CONCLUSIONS: Given the rarity of MPNs in pediatrics and their different characteristics compared with adults, we believe there is a need for unique diagnostic criteria to match the different molecular statuses in pediatrics. Based on our
review, the incidence of MPN complications in pediatrics, including thrombotic events, hemorrhage, and leukemic transformation, differs from that in adults.