Division of Cancer Medicine, UT MD Anderson Cancer Center, Houston, TX 77030, USA.
Department of Internal Medicine, Division of Hematology/Oncology, University of Michigan, Ann Arbor, MI 48109, USA.
Blood Rev. 2021 Jan;45:100691. doi: 10.1016/j.blre.2020.100691. Epub 2020 Apr 7.
Although understanding of the pathogenesis and molecular biology of primary myelofibrosis continues to improve, treatment options are limited, and several biological features remain unexplained. With an appropriate clinical history, exam, laboratory evaluation, and bone marrow biopsy, the diagnosis can often be established. Recent studies have better characterized prognostic factors and driver mutations in myelofibrosis, facilitated by use of next-generation sequencing. These advances have facilitated development of a management strategy that is based on both risk factors and clinical phenotype. For low-risk patients, treatment will depend on symptom severity. For patients with higher-risk disease, several treatments are available including JAK inhibitors, allogeneic hematopoietic stem cell transplant, and clinical trials using novel molecularly targeted therapies and rational drug combinations. In this review, we outline what is known about the disease pathogenesis, discuss an approach to reaching the diagnosis, review the prognosis of myelofibrosis, and detail current therapeutic strategies.
尽管原发性骨髓纤维化的发病机制和分子生物学的理解不断提高，但治疗选择有限，并且仍有几个生物学特征未得到解释。通过适当的临床病史、检查、实验室评估和骨髓活检，通常可以确立诊断。最近的研究通过使用下一代测序更好地描述了骨髓纤维化中的预后因素和驱动突变，这些进展促进了基于风险因素和临床表型的管理策略的制定。对于低危患者，治疗将取决于症状严重程度。对于高危疾病患者，有几种治疗方法可用，包括 JAK 抑制剂、同种异体造血干细胞移植，以及使用新型分子靶向治疗和合理药物联合的临床试验。在这篇综述中，我们概述了对疾病发病机制的了解，讨论了诊断方法，回顾了骨髓纤维化的预后，并详细介绍了当前的治疗策略。
