Myelofibrosis causes: Difference between revisions

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==Causes==
==Causes==
*The most common cause of myelofibrosis is somatic mutation in myeloproliferative leukemia virus (MPL) oncogene, the calreticulin (CALR) gene, or Janus kinase 2 (JAK2) gene with approximately 90% of the patients carrying one of these mutations.<ref name="pmid27870387">{{cite journal |vauthors=Tefferi A |title=Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management |journal=Am. J. Hematol. |volume=91 |issue=12 |pages=1262–1271 |date=December 2016 |pmid=27870387 |doi=10.1002/ajh.24592 |url=}}</ref><ref name="TefferiLasho2014">{{cite journal|last1=Tefferi|first1=A|last2=Lasho|first2=T L|last3=Finke|first3=C M|last4=Knudson|first4=R A|last5=Ketterling|first5=R|last6=Hanson|first6=C H|last7=Maffioli|first7=M|last8=Caramazza|first8=D|last9=Passamonti|first9=F|last10=Pardanani|first10=A|title=CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons|journal=Leukemia|volume=28|issue=7|year=2014|pages=1472–1477|issn=0887-6924|doi=10.1038/leu.2014.3}}</ref><ref name="pmid15781101">{{cite journal |author=Baxter EJ, Scott LM, Campbell PJ, ''et al'' |title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders |journal=Lancet |volume=365 |issue=9464 |pages=1054–61 |year=2005 |pmid=15781101 |doi=10.1016/S0140-6736(05)71142-9 |url=http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(05)71142-9}}</ref><ref name="pmid16834459">{{cite journal |author=Pikman Y, Lee BH, Mercher T, ''et al'' |title=MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia |journal=PLoS Med. |volume=3 |issue=7 |pages=e270 |year=2006 |month=July |pmid=16834459 |pmc=1502153 |doi=10.1371/journal.pmed.0030270 |url=http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pmed.0030270}}</ref><ref name="pmid27756071">{{cite journal |vauthors=Alshemmari SH, Rajan R, Emadi A |title=Molecular Pathogenesis and Clinical Significance of Driver Mutations in Primary Myelofibrosis: A Review |journal=Med Princ Pract |volume=25 |issue=6 |pages=501–509 |date=2016 |pmid=27756071 |pmc=5588514 |doi=10.1159/000450956 |url=}}</ref><ref name="pmid27913528">{{cite journal |vauthors=Shammo JM, Stein BL |title=Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisions |journal=Hematology Am Soc Hematol Educ Program |volume=2016 |issue=1 |pages=552–560 |date=December 2016 |pmid=27913528 |pmc=6142495 |doi=10.1182/asheducation-2016.1.552 |url=}}</ref><ref name="pmid24997152">{{cite journal |vauthors=Li B, Xu J, Wang J, Gale RP, Xu Z, Cui Y, Yang L, Xing R, Ai X, Qin T, Zhang Y, Zhang P, Xiao Z |title=Calreticulin mutations in Chinese with primary myelofibrosis |journal=Haematologica |volume=99 |issue=11 |pages=1697–700 |date=November 2014 |pmid=24997152 |pmc=4222480 |doi=10.3324/haematol.2014.109249 |url=}}</ref><ref name="pmid27037840">{{cite journal |vauthors=Rotunno G, Pacilli A, Artusi V, Rumi E, Maffioli M, Delaini F, Brogi G, Fanelli T, Pancrazzi A, Pietra D, Bernardis I, Belotti C, Pieri L, Sant'Antonio E, Salmoiraghi S, Cilloni D, Rambaldi A, Passamonti F, Barbui T, Manfredini R, Cazzola M, Tagliafico E, Vannucchi AM, Guglielmelli P |title=Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group |journal=Am. J. Hematol. |volume=91 |issue=7 |pages=681–6 |date=July 2016 |pmid=27037840 |doi=10.1002/ajh.24377 |url=}}</ref><ref name="pmid28419183">{{cite journal |vauthors=Song J, Hussaini M, Zhang H, Shao H, Qin D, Zhang X, Ma Z, Hussnain Naqvi SM, Zhang L, Moscinski LC |title=Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |journal=Am. J. Clin. Pathol. |volume=147 |issue=5 |pages=444–452 |date=May 2017 |pmid=28419183 |pmc=5402718 |doi=10.1093/ajcp/aqw222 |url=}}</ref><ref name="pmid27870387">{{cite journal |vauthors=Tefferi A |title=Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management |journal=Am. J. Hematol. |volume=91 |issue=12 |pages=1262–1271 |date=December 2016 |pmid=27870387 |doi=10.1002/ajh.24592 |url=}}</ref><ref name="pmid23619563">{{cite journal |vauthors=Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, Finke C, Score J, Gangat N, Mannarelli C, Ketterling RP, Rotunno G, Knudson RA, Susini MC, Laborde RR, Spolverini A, Pancrazzi A, Pieri L, Manfredini R, Tagliafico E, Zini R, Jones A, Zoi K, Reiter A, Duncombe A, Pietra D, Rumi E, Cervantes F, Barosi G, Cazzola M, Cross NC, Tefferi A |title=Mutations and prognosis in primary myelofibrosis |journal=Leukemia |volume=27 |issue=9 |pages=1861–9 |date=September 2013 |pmid=23619563 |doi=10.1038/leu.2013.119 |url=}}</ref><ref name="pmid26182311">{{cite journal |vauthors=Tefferi A, Pardanani A |title=Myeloproliferative Neoplasms: A Contemporary Review |journal=JAMA Oncol |volume=1 |issue=1 |pages=97–105 |date=April 2015 |pmid=26182311 |doi=10.1001/jamaoncol.2015.89 |url=}}</ref>
*The most common cause of myelofibrosis is somatic mutation in myeloproliferative leukemia virus (MPL) oncogene, the calreticulin (CALR) gene, or Janus kinase 2 (JAK2) gene with approximately 90% of the patients carrying one of these mutations.<ref name="pmid27870387">{{cite journal |vauthors=Tefferi A |title=Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management |journal=Am. J. Hematol. |volume=91 |issue=12 |pages=1262–1271 |date=December 2016 |pmid=27870387 |doi=10.1002/ajh.24592 |url=}}</ref><ref name="TefferiLasho2014">{{cite journal|last1=Tefferi|first1=A|last2=Lasho|first2=T L|last3=Finke|first3=C M|last4=Knudson|first4=R A|last5=Ketterling|first5=R|last6=Hanson|first6=C H|last7=Maffioli|first7=M|last8=Caramazza|first8=D|last9=Passamonti|first9=F|last10=Pardanani|first10=A|title=CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons|journal=Leukemia|volume=28|issue=7|year=2014|pages=1472–1477|issn=0887-6924|doi=10.1038/leu.2014.3}}</ref><ref name="pmid15781101">{{cite journal |author=Baxter EJ, Scott LM, Campbell PJ, ''et al'' |title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders |journal=Lancet |volume=365 |issue=9464 |pages=1054–61 |year=2005 |pmid=15781101 |doi=10.1016/S0140-6736(05)71142-9 |url=http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(05)71142-9}}</ref><ref name="pmid16834459">{{cite journal |author=Pikman Y, Lee BH, Mercher T, ''et al'' |title=MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia |journal=PLoS Med. |volume=3 |issue=7 |pages=e270 |year=2006 |month=July |pmid=16834459 |pmc=1502153 |doi=10.1371/journal.pmed.0030270 |url=http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pmed.0030270}}</ref><ref name="pmid27756071">{{cite journal |vauthors=Alshemmari SH, Rajan R, Emadi A |title=Molecular Pathogenesis and Clinical Significance of Driver Mutations in Primary Myelofibrosis: A Review |journal=Med Princ Pract |volume=25 |issue=6 |pages=501–509 |date=2016 |pmid=27756071 |pmc=5588514 |doi=10.1159/000450956 |url=}}</ref><ref name="pmid27913528">{{cite journal |vauthors=Shammo JM, Stein BL |title=Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisions |journal=Hematology Am Soc Hematol Educ Program |volume=2016 |issue=1 |pages=552–560 |date=December 2016 |pmid=27913528 |pmc=6142495 |doi=10.1182/asheducation-2016.1.552 |url=}}</ref><ref name="pmid24997152">{{cite journal |vauthors=Li B, Xu J, Wang J, Gale RP, Xu Z, Cui Y, Yang L, Xing R, Ai X, Qin T, Zhang Y, Zhang P, Xiao Z |title=Calreticulin mutations in Chinese with primary myelofibrosis |journal=Haematologica |volume=99 |issue=11 |pages=1697–700 |date=November 2014 |pmid=24997152 |pmc=4222480 |doi=10.3324/haematol.2014.109249 |url=}}</ref><ref name="pmid27037840">{{cite journal |vauthors=Rotunno G, Pacilli A, Artusi V, Rumi E, Maffioli M, Delaini F, Brogi G, Fanelli T, Pancrazzi A, Pietra D, Bernardis I, Belotti C, Pieri L, Sant'Antonio E, Salmoiraghi S, Cilloni D, Rambaldi A, Passamonti F, Barbui T, Manfredini R, Cazzola M, Tagliafico E, Vannucchi AM, Guglielmelli P |title=Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group |journal=Am. J. Hematol. |volume=91 |issue=7 |pages=681–6 |date=July 2016 |pmid=27037840 |doi=10.1002/ajh.24377 |url=}}</ref><ref name="pmid28419183">{{cite journal |vauthors=Song J, Hussaini M, Zhang H, Shao H, Qin D, Zhang X, Ma Z, Hussnain Naqvi SM, Zhang L, Moscinski LC |title=Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |journal=Am. J. Clin. Pathol. |volume=147 |issue=5 |pages=444–452 |date=May 2017 |pmid=28419183 |pmc=5402718 |doi=10.1093/ajcp/aqw222 |url=}}</ref><ref name="pmid27870387">{{cite journal |vauthors=Tefferi A |title=Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management |journal=Am. J. Hematol. |volume=91 |issue=12 |pages=1262–1271 |date=December 2016 |pmid=27870387 |doi=10.1002/ajh.24592 |url=}}</ref><ref name="pmid23619563">{{cite journal |vauthors=Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, Finke C, Score J, Gangat N, Mannarelli C, Ketterling RP, Rotunno G, Knudson RA, Susini MC, Laborde RR, Spolverini A, Pancrazzi A, Pieri L, Manfredini R, Tagliafico E, Zini R, Jones A, Zoi K, Reiter A, Duncombe A, Pietra D, Rumi E, Cervantes F, Barosi G, Cazzola M, Cross NC, Tefferi A |title=Mutations and prognosis in primary myelofibrosis |journal=Leukemia |volume=27 |issue=9 |pages=1861–9 |date=September 2013 |pmid=23619563 |doi=10.1038/leu.2013.119 |url=}}</ref><ref name="pmid26182311">{{cite journal |vauthors=Tefferi A, Pardanani A |title=Myeloproliferative Neoplasms: A Contemporary Review |journal=JAMA Oncol |volume=1 |issue=1 |pages=97–105 |date=April 2015 |pmid=26182311 |doi=10.1001/jamaoncol.2015.89 |url=}}</ref>
*Less commonly occuring genetic mutations include the following genes:
*Less commonly occuring etiliological genetic mutations include the following genes:
:*Additional sex combs-like 1 (ASXL1)<ref name="pmid26124496">{{cite journal |vauthors=Patel KP, Newberry KJ, Luthra R, Jabbour E, Pierce S, Cortes J, Singh R, Mehrotra M, Routbort MJ, Luthra M, Manshouri T, Santos FP, Kantarjian H, Verstovsek S |title=Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib |journal=Blood |volume=126 |issue=6 |pages=790–7 |date=August 2015 |pmid=26124496 |pmc=4528066 |doi=10.1182/blood-2015-03-633404 |url=}}</ref>
:*Additional sex combs-like 1 (ASXL1)<ref name="pmid26124496">{{cite journal |vauthors=Patel KP, Newberry KJ, Luthra R, Jabbour E, Pierce S, Cortes J, Singh R, Mehrotra M, Routbort MJ, Luthra M, Manshouri T, Santos FP, Kantarjian H, Verstovsek S |title=Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib |journal=Blood |volume=126 |issue=6 |pages=790–7 |date=August 2015 |pmid=26124496 |pmc=4528066 |doi=10.1182/blood-2015-03-633404 |url=}}</ref>
:*Slicing factor, serine/arginine-rich 2 (SRSF2)
:*Slicing factor, serine/arginine-rich 2 (SRSF2)

Revision as of 22:51, 13 November 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], Sujit Routray, M.D. [3]

Overview

Myelofibrosis is most commonly caused by somatic mutations in the myeloproliferative leukemia virus (MPL) oncogene, the calreticulin (CALR) gene, or Janus kinase 2 (JAK2) gene. Less common mutations in other genes have also been documented. It can also be the result of other primary disorders manifesting as a complication or part of the disease process.

Causes

  • The most common cause of myelofibrosis is somatic mutation in myeloproliferative leukemia virus (MPL) oncogene, the calreticulin (CALR) gene, or Janus kinase 2 (JAK2) gene with approximately 90% of the patients carrying one of these mutations.[1][2][3][4][5][6][7][8][9][1][10][11]
  • Less commonly occuring etiliological genetic mutations include the following genes:
  • Additional sex combs-like 1 (ASXL1)[12]
  • Slicing factor, serine/arginine-rich 2 (SRSF2)
  • Enhancer of zeste, drosophila, homolog 2 (EZH2)
  • Neuroblastoma RAS viral oncogene homolog (NRAS)
  • Kirsten rat sarcoma viral oncogene homolog (KRAS)
  • Protein-tyrosine phosphatase, non-receptor type 11 (PTPN11)
  • GATA-binding protein 2 (GATA2)
  • Tumor protein p53 (TP53)
  • Runt-related transcription factor 1 (RUNX1)

References

  1. ↑ 1.0 1.1 Tefferi A (December 2016). "Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management". Am. J. Hematol. 91 (12): 1262–1271. doi:10.1002/ajh.24592. PMID 27870387.
  2. ↑ Tefferi, A; Lasho, T L; Finke, C M; Knudson, R A; Ketterling, R; Hanson, C H; Maffioli, M; Caramazza, D; Passamonti, F; Pardanani, A (2014). "CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons". Leukemia. 28 (7): 1472–1477. doi:10.1038/leu.2014.3. ISSN 0887-6924.
  3. ↑ Baxter EJ, Scott LM, Campbell PJ; et al. (2005). "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders". Lancet. 365 (9464): 1054–61. doi:10.1016/S0140-6736(05)71142-9. PMID 15781101.
  4. ↑ Pikman Y, Lee BH, Mercher T; et al. (2006). "MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia". PLoS Med. 3 (7): e270. doi:10.1371/journal.pmed.0030270. PMC 1502153. PMID 16834459. Unknown parameter |month= ignored (help)
  5. ↑ Alshemmari SH, Rajan R, Emadi A (2016). "Molecular Pathogenesis and Clinical Significance of Driver Mutations in Primary Myelofibrosis: A Review". Med Princ Pract. 25 (6): 501–509. doi:10.1159/000450956. PMC 5588514. PMID 27756071.
  6. ↑ Shammo JM, Stein BL (December 2016). "Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisions". Hematology Am Soc Hematol Educ Program. 2016 (1): 552–560. doi:10.1182/asheducation-2016.1.552. PMC 6142495. PMID 27913528.
  7. ↑ Li B, Xu J, Wang J, Gale RP, Xu Z, Cui Y, Yang L, Xing R, Ai X, Qin T, Zhang Y, Zhang P, Xiao Z (November 2014). "Calreticulin mutations in Chinese with primary myelofibrosis". Haematologica. 99 (11): 1697–700. doi:10.3324/haematol.2014.109249. PMC 4222480. PMID 24997152.
  8. ↑ Rotunno G, Pacilli A, Artusi V, Rumi E, Maffioli M, Delaini F, Brogi G, Fanelli T, Pancrazzi A, Pietra D, Bernardis I, Belotti C, Pieri L, Sant'Antonio E, Salmoiraghi S, Cilloni D, Rambaldi A, Passamonti F, Barbui T, Manfredini R, Cazzola M, Tagliafico E, Vannucchi AM, Guglielmelli P (July 2016). "Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group". Am. J. Hematol. 91 (7): 681–6. doi:10.1002/ajh.24377. PMID 27037840.
  9. ↑ Song J, Hussaini M, Zhang H, Shao H, Qin D, Zhang X, Ma Z, Hussnain Naqvi SM, Zhang L, Moscinski LC (May 2017). "Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis". Am. J. Clin. Pathol. 147 (5): 444–452. doi:10.1093/ajcp/aqw222. PMC 5402718. PMID 28419183.
  10. ↑ Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, Finke C, Score J, Gangat N, Mannarelli C, Ketterling RP, Rotunno G, Knudson RA, Susini MC, Laborde RR, Spolverini A, Pancrazzi A, Pieri L, Manfredini R, Tagliafico E, Zini R, Jones A, Zoi K, Reiter A, Duncombe A, Pietra D, Rumi E, Cervantes F, Barosi G, Cazzola M, Cross NC, Tefferi A (September 2013). "Mutations and prognosis in primary myelofibrosis". Leukemia. 27 (9): 1861–9. doi:10.1038/leu.2013.119. PMID 23619563.
  11. ↑ Tefferi A, Pardanani A (April 2015). "Myeloproliferative Neoplasms: A Contemporary Review". JAMA Oncol. 1 (1): 97–105. doi:10.1001/jamaoncol.2015.89. PMID 26182311.
  12. ↑ Patel KP, Newberry KJ, Luthra R, Jabbour E, Pierce S, Cortes J, Singh R, Mehrotra M, Routbort MJ, Luthra M, Manshouri T, Santos FP, Kantarjian H, Verstovsek S (August 2015). "Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib". Blood. 126 (6): 790–7. doi:10.1182/blood-2015-03-633404. PMC 4528066. PMID 26124496.


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