Rambaldi Alessandro, Barbui Tiziano, Barosi Giovanni
Unit of Hematology, Ospedali Riuniti Bergamo, Istituto di Ricovero e Cura a Carattere Scientifico, Policlinico S., Matteo Foundation, Pavia, Italy.
Hematology Am Soc Hematol Educ Program. 2008:83-91. doi: 10.1182/asheducation-2008.1.83.
Myelofibrosis shows a progressive clinical course and usually a poor, lethal prognosis. The molecular pathogenesis of this disease largely remains to be fully understood but the identification of the JAK2V617F mutation in more than half of patients was a major improvement in our understanding of the disease biology and may represent the first biologic marker useful for risk stratification, independently from conventional clinical predictors. After many elusive efforts, new effective treatment strategies are becoming available for this disease. Allogeneic transplantation following reduced-intensity conditioning programs, at least in some patients, may induce not only a hematologic response but also a molecular remission, thus supporting the hope of a possible, definitive eradication of the disease. Moreover, new innovative drugs, targeting either the JAK2V617F mutation or more general oncogenic mechanisms, may provide widely applicable, effective treatments to many patients for whom allogeneic transplantation is not feasible.
骨髓纤维化呈现出进行性的临床病程，通常预后不良且致命。这种疾病的分子发病机制在很大程度上仍有待充分了解，但超过半数患者中发现JAK2V617F突变是我们对疾病生物学认识的一大进步，并且可能代表首个独立于传统临床预测指标之外、对风险分层有用的生物标志物。经过诸多难以捉摸的努力后，针对这种疾病的新的有效治疗策略正在出现。至少在部分患者中，采用减低剂量预处理方案后的异基因移植不仅可能诱导血液学反应，还可能诱导分子缓解，从而为有望彻底根除该疾病带来了希望。此外，针对JAK2V617F突变或更广泛致癌机制的新型创新药物，可能为许多无法进行异基因移植的患者提供广泛适用的有效治疗方法。
