Myeloproliferative neoplasm causes: Difference between revisions

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Revision as of 18:15, 19 June 2018

Myeloproliferative Neoplasm Microchapters

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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]

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][2][1]

Causes

Myeloproliferative neoplasm subtype Causative gene mutation

Polycythemia vera

  • JAK2 V617F in 95% of cases
  • CALR
  • MPL

Essential thrombocythemia

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

Primary myelofibrosis

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

Chronic myeloid leukemia

  • BCR-ABL
  • SETBP1[4]

Chronic neutrophilic leukemia

Chronic eosinophilic leukemia

  • FIL1L1-PDGFRA
  • PDGFRB
  • FGFR1[6]
  • PCM1-JAK2

Myeloproliferative neoplasm, unclassifiable

  • Variable

Mastocytosis

  • c-kit D816V

References

  1. 1.0 1.1 Ganfyd. Polycythaemia vera 2015.http://www.ganfyd.org/index.php?title=Polycythemia_vera
  2. Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID http://dx.doi.org/10.1182/blood-2013-11-538983 Check |pmid= value (help).
  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. 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.
  5. 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.
  6. 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.

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