Finazzi Maria Chiara, Lussana Federico, Salmoiraghi Silvia, Spinelli Orietta, Rambaldi Alessandro
a Hematology and Bone Marrow Transplant Unit, Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII , Bergamo , Italy.
b Department of Oncology and Hematology , Università degli Studi di Milano , Milan , Italy.
Expert Rev Hematol. 2017 Jul;10(7):627-636. doi: 10.1080/17474086.2017.1331125. Epub 2017 May 25.
Myelofibrosis (MF) is the most aggressive form among Philadelphia negative (Ph-) myeloproliferative neoplasms (MPNs). In the last years, the mutational landscape of MF has expanded remarkably by the identification of additional recurrent mutations, called subclonal mutations. Areas covered: Here we describe the available data about the currently identified subclonal mutations and their prognostic value in MF patients. We also review the practical value of including such molecular information in available prognostic models for both outcome prediction and possibly treatment decision with regards to transplant indication. Lastly, we covered the available data on the application of molecular markers for minimal residual disease (MRD) monitoring after transplantation. Expert commentary: The demonstration of the prognostic value of additional mutations suggests to define this molecular profile at diagnosis and when an allogeneic transplant can be advised, particularly in younger patients. The presence of molecular markers might offer the possibility to evaluate the depth of remission and to monitor MRD after transplantation. Prospective clinical studies are needed to validate the use of this molecular data in the routine clinical practice.
骨髓纤维化（MF）是费城阴性（Ph-）骨髓增殖性肿瘤（MPN）中最具侵袭性的形式。在过去几年中，通过鉴定额外的复发性突变（即亚克隆突变），MF的突变格局显著扩展。涵盖领域：在此，我们描述了目前已鉴定的亚克隆突变的现有数据及其在MF患者中的预后价值。我们还回顾了将此类分子信息纳入现有预后模型以进行预后预测以及可能就移植指征做出治疗决策的实用价值。最后，我们涵盖了关于移植后应用分子标志物监测微小残留病（MRD）的现有数据。专家评论：额外突变的预后价值证明，建议在诊断时以及可建议进行异基因移植时，尤其是在年轻患者中，确定这种分子特征。分子标志物的存在可能为评估缓解深度和移植后监测MRD提供可能性。需要开展前瞻性临床研究以验证在常规临床实践中使用这种分子数据的情况。
