Al-Mashdali Abdulrahman F, Aldapt Mahmood B, Rahhal Alaa, Hailan Yousef M, Elhakeem Israa, Ali Elrazi A, Rozi Waail, Yassin Mohamed A
Department of Internal Medicine, Hamad Medical Corporation, Doha 3050, Qatar.
Department of Medicine, Unity Hospital, Rochester Regional Health, Rochester, NY 14626, USA.
Diagnostics (Basel). 2023 Jan 19;13(3):377. doi: 10.3390/diagnostics13030377.
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.
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.
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.
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.
费城染色体阴性骨髓增殖性肿瘤（MPN）在老年人群中最为常见（诊断时的中位年龄超过60岁），在儿科中很少被诊断出来。因此，我们对儿科MPN的临床表现、突变状态和并发症的了解有限。
检索英文文献（PubMed、SCOPUS和谷歌学术），查找儿科年龄组（小于18岁）费城染色体阴性MPN患者（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前骨髓纤维化）的研究、综述、病例系列和病例报告。仅纳入符合WHO 2008或2016年MPN标准的研究。我们旨在描述儿科MPN患者的临床特征、血管和长期并发症、驱动突变类型及治疗方法。
我们回顾了2008年至2022年期间33篇已发表的文献，并收集了总共196例儿科患者的数据。在这些患者队列中，139例患有原发性血小板增多症（ET），20例患有真性红细胞增多症（PV），37例患有原发性骨髓纤维化（PMF）。每种疾病诊断时的中位年龄各不相同，ET为8.8岁，PV为10岁，MF为3.6岁。两个性别组以及所有三种疾病的性别患病率略有差异。超过50%的研究未提及首发症状。我们发现JAK2是所有突变中最常见的。ET患者出血和血栓形成的情况相同，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。两名PV患者和一名ET患者进展为急性髓系白血病（AML）。
鉴于MPN在儿科中罕见且与成人相比具有不同特征，我们认为需要独特的诊断标准来匹配儿科不同的分子状态。根据我们的综述，儿科MPN并发症的发生率，包括血栓形成事件、出血和白血病转化，与成人不同。
