Myeloproliferative neoplasm causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2] Shyam Patel [3]


Myeloproliferative neoplasm is caused by mutations in various genes. Different gene mutations are responsible for each of the 8 subtypes of myeloproliferative neoplasms.[1]


Myeloproliferative neoplasm subtype Causative gene mutation

Polycythemia vera

  • JAK2 V617F in 95% of cases[2]
  • CALR
  • MPL

Essential thrombocythemia

  • JAK2 V617F in 50-60% of cases[3]
  • CALR
  • MPL

Primary myelofibrosis

  • JAK2 V617F in 50-60% of cases[4]
  • CALR
  • MPL

Chronic myeloid leukemia

  • SETBP1 in atypical CML[5]

Chronic neutrophilic leukemia

  • CSF3R[6]
  • SETBP1 in rare cases

Chronic eosinophilic leukemia

  • FIP1L1-PDGFRA[7]
  • PDGFRB[7]
  • FGFR1[7]
  • PCM1-JAK2

Myeloproliferative neoplasm, unclassifiable

  • Variable



  1. Ganfyd. Polycythaemia vera 2015.
  2. Griesshammer M, Gisslinger H, Mesa R (2015). "Current and future treatment options for polycythemia vera". Ann Hematol. 94 (6): 901–10. doi:10.1007/s00277-015-2357-4. PMC 4420843. PMID 25832853.
  3. Antonioli E, Carobbio A, Pieri L, Pancrazzi A, Guglielmelli P, Delaini F; et al. (2010). "Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia". Haematologica. 95 (8): 1435–8. doi:10.3324/haematol.2009.021444. PMC 2913097. PMID 20418246.
  4. Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martínez-Trillos A, Casetti I; et al. (2014). "Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis". Blood. 124 (7): 1062–9. doi:10.1182/blood-2014-05-578435. PMC 4133481. PMID 24986690.
  5. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A; et al. (2013). "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia". Nat Genet. 45 (1): 18–24. doi:10.1038/ng.2495. PMC 3588142. PMID 23222956.
  6. Szuber N, Tefferi A (2018). "Chronic neutrophilic leukemia: new science and new diagnostic criteria". Blood Cancer J. 8 (2): 19. doi:10.1038/s41408-018-0049-8. PMC 5811432. PMID 29440636.
  7. 7.0 7.1 7.2 Falchi L, Verstovsek S (2015). "Eosinophilia in Hematologic Disorders". Immunol Allergy Clin North Am. 35 (3): 439–52. doi:10.1016/j.iac.2015.04.004. PMC 4515577. PMID 26209894.
  8. Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O; et al. (2017). "Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future". Cancer Res. 77 (6): 1261–1270. doi:10.1158/0008-5472.CAN-16-2234. PMC 5354959. PMID 28254862.

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