Not a mutation-specific disease4,5

Researchers originally thought that the JAK2V617F mutation in myeloproliferative neoplasms (MPNs) was the sole driver of disease.1,6

In fact, the JAK2V617F mutation is just one way the JAK pathway can become persistently activated in myelofibrosis.1-3

Myelofibrosis is a complex disease characterized by multiple genetic, epigenetic and cellular alterations. Most importantly, overactive JAK signaling and not JAK2V617F is the hallmark of myelofibrosis.1-5

The JAK2V617F mutation represents only one way that the JAK pathway can be defective1-3

JAK mutation
JAK=Janus kinase.
SOCS=suppressor of cytokine signaling.
STAT= signal transducer and activator of transcription.
TYK2=tyrosine kinase 2.

What is the significance of the JAK2V617F mutation in myelofibrosis?

The JAK2V617F Mutation and Myeloproliferative Neoplasms


  1. Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA. Blood. 2011;118:1723-1735.
  2. Quintás-Cardama A, Vaddi K, Liu P, et al. Blood. 2010;115:3109-3117.
  3. Fourouclas N, Li J, Gilby DC, et al. Haematologica. 2008;93:1635-1644.
  4. Vardiman JW, Thiele J, Arber DA, et al. Blood. 2009;114:937-951.
  5. Verstovsek S, Kantarjian H, Mesa RA, et al. N Engl J Med. 2010;363:1117-1127.
  6. Vainchenker W, Constantinescu SN. Hematology. 2005:195-200.