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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Myeloproliferative neoplasm causes

Introduction

Overview

Overview

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

Causes

Causes
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

  • BCR-ABL
  • 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

Mastocytosis

References

References

  1. ↑ Ganfyd. Polycythaemia vera 2015.http://www.ganfyd.org/index.php?title=Polycythemia_vera
  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.

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