Slone Jeremy S, Smith Megan C, Seegmiller Adam C, Sidonio Robert F, Yang Elizabeth
*Division of Pediatric Hematology-Oncology †Department of Pathology, Microbiology, and Immunology, Vanderbilt University, Nashville, TN.
J Pediatr Hematol Oncol. 2013 Oct;35(7):559-65. doi: 10.1097/MPH.0b013e31829cdea0.
We report 3 pediatric cases of primary/idiopathic myelofibrosis (PMF/IMF). Two cases exhibited clinical courses not typically observed in adult patients in whom this process is much more common. One of these cases exhibited spontaneous clinical and bone marrow resolution, whereas the other case achieved near resolution of myelofibrosis in response to cytoreductive therapy alone. However, the third case of IMF that met diagnostic criteria for essential thrombocythemia with a JAK2V617F mutation had central venous thrombosis that resulted in blindness. PMF/IMF, a rare finding in children, does not seem to portend the same level of risk as seen in adults with the same process, thus less aggressive management may be appropriate. However, delayed diagnosis of mutation-associated PMF or essential thrombocythemia can lead to devastating consequences. We review the literature and discuss the complexities surrounding diagnosis, risk stratification, and management of pediatric PMF/IMF.
我们报告了3例儿童原发性/特发性骨髓纤维化（PMF/IMF）病例。其中2例呈现出在成人患者中不常见的临床病程，而骨髓纤维化在成人中更为常见。其中1例出现了自发的临床及骨髓缓解，而另一例仅通过细胞减灭治疗就实现了骨髓纤维化的近乎缓解。然而，第三例符合伴有JAK2V617F突变的原发性血小板增多症诊断标准的IMF患者发生了中心静脉血栓形成，导致失明。PMF/IMF在儿童中较为罕见，其风险程度似乎与患有相同病症的成人不同，因此可能适合采用较不激进的治疗方法。然而，与突变相关的PMF或原发性血小板增多症的延迟诊断可能会导致灾难性后果。我们回顾了文献，并讨论了围绕儿童PMF/IMF诊断、风险分层和管理的复杂性。
