The Korean journal of internal medicine

The Korean Association of Internal Medicine (대한내과학회)
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Recent advances in the diagnosis and management of primary myelofibrosis

  • Takenaka, Katsuto (Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences) ;
  • Shimoda, Kazuya (Department of Gastroenterology and Hematology, University of Miyazaki Faculty of Medicine) ;
  • Akashi, Koichi (Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences)
  • Received : 2018.01.10
  • Accepted : 2018.03.07
  • Published : 2018.07.01
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Abstract

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) in which dysregulation of the Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathways is the major pathogenic mechanism. Most patients with PMF carry a driver mutation in the $JAK_2$, MPL (myeloproliferative leukemia), or CALR (calreticulin) genes. Mutations in epigenetic regulators and RNA splicing genes may also occur, and play critical roles in PMF disease progression. Based on revised World Health Organization diagnostic criteria for MPNs, both screening for driver mutations and bone marrow biopsy are required for a specific diagnosis. Clinical trials of $JAK_2$ inhibitors for PMF have revealed significant efficacy for improving splenomegaly and constitutional symptoms. However, the currently available drug therapies for PMF do not improve survival. Although allogeneic stem cell transplantation is potentially curative, it is associated with substantial treatment-related morbidity and mortality. PMF is a heterogeneous disorder and decisions regarding treatments are often complicated, necessitating the use of prognostic models to determine the management of treatments for individual patients. This review focuses on the clinical aspects and outcomes of a cohort of Japanese patients with PMF, including discussion of recent advances in the management of PMF.

Keywords

Acknowledgement

Supported by : Idiopathic Disorders of Hematopoietic Organs Research Committee of Japan

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