Kucine Nicole, Chastain Katherine M, Mahler Michelle B, Bussel James B
Haematologica. 2014 Apr;99(4):620-8. doi: 10.3324/haematol.2013.092684.
Myeloproliferative neoplasms are uncommon disorders in children, for which we have limited understanding of the pathogenesis and optimal management. JAK2 and MPL mutations, while common drivers of myeloproliferative neoplasms in adult patients, are not clearly linked to pediatric disease. Management and clinical outcomes in adults have been well delineated with defined recommendations for risk stratification and treatment. This is not the case for pediatric patients, for whom there is neither a standard approach to workup nor any consensus regarding management. This review will discuss thrombocytosis in children, including causes of thrombocytosis in children, the limited knowledge we have regarding pediatric primary thrombocytosis, and our thoughts on potential risk stratification and management, and future questions to be answered by laboratory research and collaborative clinical study.
骨髓增殖性肿瘤在儿童中是罕见疾病,我们对其发病机制和最佳治疗方法的了解有限。JAK2和MPL突变虽然是成人骨髓增殖性肿瘤的常见驱动因素,但与儿童疾病并无明确关联。成人的管理和临床结果已得到明确界定,有针对风险分层和治疗的明确建议。而儿科患者并非如此,他们既没有标准的检查方法,在治疗方面也没有达成任何共识。本综述将讨论儿童血小板增多症,包括儿童血小板增多症的病因、我们对儿童原发性血小板增多症的有限认识、我们对潜在风险分层和治疗的看法,以及实验室研究和协作临床研究有待解答的未来问题。