Myeloproliferative neoplasm causes: Difference between revisions

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__NOTOC__
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{{Myeloproliferative disease}}
{{Myeloproliferative disease}}
{{CMG}}{{AE}} {{MJK}}
{{CMG}}{{AE}} {{MJK}} {{shyam}}
==Overview==
==Overview==
Myeloproliferative disease is caused by a mutation in the ''[[BCR]]-[[ABL]]'', ''[[Janus kinase 2]]'', and [[calreticulin]] genes.<ref name="ganfyd">Ganfyd. Polycythaemia vera 2015.http://www.ganfyd.org/index.php?title=Polycythemia_vera</ref><ref name="pmidhttp://dx.doi.org/10.1182/blood-2013-11-538983">{{cite journal| author=Schmoldt A, Benthe HF, Haberland G| title=Digitoxin metabolism by rat liver microsomes. | journal=Biochem Pharmacol | year= 1975 | volume= 24 | issue= 17 | pages= 1639-41 | pmid=http://dx.doi.org/10.1182/blood-2013-11-538983 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10 }} </ref><ref name="ganfyd">Ganfyd. Myelofibrosis2015.http://www.ganfyd.org/index.php?title=Primary_myelofibrosis</ref>
Myeloproliferative neoplasm is caused by mutations in various genes. Different gene mutations are responsible for each of the 8 subtypes of myeloproliferative neoplasms.<ref name="ganfyd">Ganfyd. Polycythaemia vera 2015.http://www.ganfyd.org/index.php?title=Polycythemia_vera</ref>
 
==Causes==
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align=center
|valign=top|
|+
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Myeloproliferative neoplasm subtype}}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Causative gene mutation}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
[[Polycythemia vera]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''JAK2'' ''V617F'' in 95% of cases<ref name="pmid25832853">{{cite journal| author=Griesshammer M, Gisslinger H, Mesa R| title=Current and future treatment options for polycythemia vera. | journal=Ann Hematol | year= 2015 | volume= 94 | issue= 6 | pages= 901-10 | pmid=25832853 | doi=10.1007/s00277-015-2357-4 | pmc=4420843 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25832853  }} </ref>
*''CALR''
*''MPL''
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Essential thrombocythemia]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''JAK2'' ''V617F'' in 50-60% of cases<ref name="pmid20418246">{{cite journal| author=Antonioli E, Carobbio A, Pieri L, Pancrazzi A, Guglielmelli P, Delaini F et al.| title=Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia. | journal=Haematologica | year= 2010 | volume= 95 | issue= 8 | pages= 1435-8 | pmid=20418246 | doi=10.3324/haematol.2009.021444 | pmc=2913097 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20418246  }} </ref>
*''CALR''
*''MPL''
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Primary myelofibrosis]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''JAK2'' ''V617F'' in 50-60% of cases<ref name="pmid24986690">{{cite journal| author=Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martínez-Trillos A, Casetti I et al.| title=Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. | journal=Blood | year= 2014 | volume= 124 | issue= 7 | pages= 1062-9 | pmid=24986690 | doi=10.1182/blood-2014-05-578435 | pmc=4133481 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24986690  }} </ref>
*''CALR''
*''MPL''
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Chronic myeloid leukemia]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''BCR-ABL''
*''SETBP1'' in atypical CML<ref name="pmid23222956">{{cite journal| author=Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A et al.| title=Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. | journal=Nat Genet | year= 2013 | volume= 45 | issue= 1 | pages= 18-24 | pmid=23222956 | doi=10.1038/ng.2495 | pmc=3588142 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23222956  }} </ref>
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Chronic neutrophilic leukemia]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''CSF3R''<ref name="pmid29440636">{{cite journal| author=Szuber N, Tefferi A| title=Chronic neutrophilic leukemia: new science and new diagnostic criteria. | journal=Blood Cancer J | year= 2018 | volume= 8 | issue= 2 | pages= 19 | pmid=29440636 | doi=10.1038/s41408-018-0049-8 | pmc=5811432 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29440636  }} </ref>
*''SETBP1'' in rare cases
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Chronic eosinophilic leukemia]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''FIP1L1-PDGFRA''<ref name="pmid26209894">{{cite journal| author=Falchi L, Verstovsek S| title=Eosinophilia in Hematologic Disorders. | journal=Immunol Allergy Clin North Am | year= 2015 | volume= 35 | issue= 3 | pages= 439-52 | pmid=26209894 | doi=10.1016/j.iac.2015.04.004 | pmc=4515577 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26209894  }} </ref>
*''PDGFRB''<ref name="pmid26209894">{{cite journal| author=Falchi L, Verstovsek S| title=Eosinophilia in Hematologic Disorders. | journal=Immunol Allergy Clin North Am | year= 2015 | volume= 35 | issue= 3 | pages= 439-52 | pmid=26209894 | doi=10.1016/j.iac.2015.04.004 | pmc=4515577 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26209894  }} </ref>
*''FGFR1''<ref name="pmid26209894">{{cite journal| author=Falchi L, Verstovsek S| title=Eosinophilia in Hematologic Disorders. | journal=Immunol Allergy Clin North Am | year= 2015 | volume= 35 | issue= 3 | pages= 439-52 | pmid=26209894 | doi=10.1016/j.iac.2015.04.004 | pmc=4515577 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26209894 }} </ref>
*''PCM1-JAK2''
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Myeloproliferative neoplasm, unclassifiable]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*Variable
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Mastocytosis]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*''c-kit'' ''D816V''<ref name="pmid28254862">{{cite journal| author=Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O et al.| title=Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. | journal=Cancer Res | year= 2017 | volume= 77 | issue= 6 | pages= 1261-1270 | pmid=28254862 | doi=10.1158/0008-5472.CAN-16-2234 | pmc=5354959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28254862  }} </ref>
|}
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[Category:Up-To-Date]]
[[Category:Oncology]]
[[Category:Medicine]]

Latest revision as of 22:48, 12 July 2018

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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]

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

  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.

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