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Yıl 2022, Cilt: 4 Sayı: 3, 112 - 120, 29.07.2022

Selda Kahraman Fatih Demirkan

https://doi.org/10.46310/tjim.1055305

Öz

Destekleyen Kurum

destekleyen kurum bulunmamaktadır

Teşekkür

İlgi ve alakanıza teşekürler

Kaynakça

  • Yönal İ, Dağlar-Aday A, Akadam-Teker B, Yılmaz C, Nalçacı M, Yavuz AS, Sargın FD. Impact of JAK2V617F mutational status on phenotypic features in essential thrombocythemia and primary myelofibrosis. Turk J Haematol. 2016 Jun 5;33(2):94-101. doi: 10.4274/tjh.2014.0136.
  • Passamonti F, Rumi E, Pungolino E, Malabarba L, Bertazzoni P, Valentini M, Orlandi E, Arcaini L, Brusamolino E, Pascutto C, Cazzola M, Morra E, Lazzarino M. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med. 2004 Nov 15;117(10):755-61. doi: 10.1016/j.amjmed.2004.06.032.
  • Cervantes F, Passamonti F, Barosi G. Life expectancy and prognostic factors in the classic BCR/ABL-negative myeloproliferative disorders. Leukemia. 2008 May;22(5):905-14. doi: 10.1038/leu.2008.72.
  • Carobbio A, Finazzi G, Guerini V, Spinelli O, Delaini F, Marchioli R, Borrelli G, Rambaldi A, Barbui T. Leukocytosis is a risk factor for thrombosis in essential thrombocythemia: interaction with treatment, standard risk factors, and Jak2 mutation status. Blood. 2007 Mar 15;109(6):2310-3. doi: 10.1182/blood-2006-09-046342.
  • Carobbio A, Antonioli E, Guglielmelli P, Vannucchi AM, Delaini F, Guerini V, Finazzi G, Rambaldi A, Barbui T. Leukocytosis and risk stratification assessment in essential thrombocythemia. J Clin Oncol. 2008 Jun 1;26(16):2732-6. doi: 10.1200/JCO.2007.15.3569.
  • Passamonti F, Rumi E, Arcaini L, Boveri E, Elena C, Pietra D, Boggi S, Astori C, Bernasconi P, Varettoni M, Brusamolino E, Pascutto C, Lazzarino M. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica. 2008 Nov;93(11):1645-51. doi: 10.3324/haematol.13346.
  • Palandri F, Catani L, Testoni N, Ottaviani E, Polverelli N, Fiacchini M, De Vivo A, Salmi F, Lucchesi A, Baccarani M, Vianelli N. Long-term follow-up of 386 consecutive patients with essential thrombocythemia: safety of cytoreductive therapy. Am J Hematol. 2009 Apr;84(4):215-20. doi: 10.1002/ajh.21360.
  • Gangat N, Wolanskyj AP, Schwager SM, Hanson CA, Tefferi A. Leukocytosis at diagnosis and the risk of subsequent thrombosis in patients with low-risk essential thrombocythemia and polycythemia vera. Cancer. 2009 Dec 15;115(24):5740-5. doi: 10.1002/cncr.24664.
  • Landolfi R, Di Gennaro L, Barbui T, De Stefano V, Finazzi G, Marfisi R, Tognoni G, Marchioli R; European Collaboration on Low-Dose Aspirin in Polycythemia Vera (ECLAP). Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood. 2007 Mar 15;109(6):2446-52. doi: 10.1182/blood-2006-08-042515.
  • Marchioli R, Finazzi G, Landolfi R, Kutti J, Gisslinger H, Patrono C, Marilus R, Villegas A, Tognoni G, Barbui T. Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol. 2005 Apr 1;23(10):2224-32. doi: 10.1200/JCO.2005.07.062.
  • Royer Y, Staerk J, Costuleanu M, Courtoy PJ, Constantinescu SN. Janus kinases affect thrombopoietin receptor cell surface localization and stability. J Biol Chem. 2005 Jul 22;280(29):27251-61. doi: 10.1074/jbc.M501376200.
  • Sirhan S, Fairbanks VF, Tefferi A. Red cell mass and plasma volume measurements in polycythemia: evaluation of performance and practical utility. Cancer. 2005 Jul 1;104(1):213-5. doi: 10.1002/cncr.21105.
  • Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ, Gilliland DG, Tefferi A. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol. 2005 Oct;131(2):208-13. doi: 10.1111/j.1365-2141.2005.05764.x.
  • Kralovics R, Teo SS, Buser AS, Brutsche M, Tiedt R, Tichelli A, Passamonti F, Pietra D, Cazzola M, Skoda RC. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood. 2005 Nov 15;106(10):3374-6. doi: 10.1182/blood-2005-05-1889.
  • Robertson B, Urquhart C, Ford I, Townend J, Watson HG, Vickers MA, Greaves M. Platelet and coagulation activation markers in myeloproliferative diseases: relationships with JAK2 V6I7 F status, clonality, and antiphospholipid antibodies. J Thromb Haemost. 2007 Aug;5(8):1679-85. doi: 10.1111/j.1538-7836.2007.02626.x.
  • Lussana F, Caberlon S, Pagani C, Kamphuisen PW, Büller HR, Cattaneo M. Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. Thromb Res. 2009 Sep;124(4):409-17. doi: 10.1016/j.thromres.2009.02.004.
  • Cervantes F, Passamonti F, Barosi G. Life expectancy and prognostic factors in the classic BCR/ABL-negative myeloproliferative disorders. Leukemia. 2008 May;22(5):905-14. doi: 10.1038/leu.2008.72.
  • Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol. 2005 Feb;128(3):275-90. doi: 10.1111/j.1365-2141.2004.05277.x.
  • Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A, Ferrari M, Gisslinger H, Kralovics R, Cremonesi L, Skoda R, Cazzola M. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood. 2008 Feb 1;111(3):1686-9. doi: 10.1182/blood-2007-07-101576.
  • Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gäken J, Wendon J, Heaton ND, Mufti GJ. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology. 2006 Jun;130(7):2031-8. doi: 10.1053/j.gastro.2006.04.008.
  • Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, et.al.; United Kingdom Myeloproliferative Disorders Study Group; Medical Research Council Adult Leukaemia Working Party; Australasian Leukaemia and Lymphoma Group. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005 Dec 3;366(9501):1945-53. doi: 10.1016/S0140-6736(05)67785-9.
  • Finazzi G, Caruso V, Marchioli R, Capnist G, Chisesi T, Finelli C, Gugliotta L, Landolfi R, Kutti J, Gisslinger H, Marilus R, Patrono C, Pogliani EM, Randi ML, Villegas A, Tognoni G, Barbui T; ECLAP Investigators. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood. 2005 Apr 1;105(7):2664-70. doi: 10.1182/blood-2004-09-3426.
  • Levy DE, Darnell JE Jr. Stats: transcriptional control and biological impact. Nat Rev Mol Cell Biol. 2002 Sep;3(9):651-62. doi: 10.1038/nrm909.
  • Bayraktar Y, Harmanci O, Büyükasik Y, Shorbagi AI, Sungur AH, Boylu CA, Gürgey A, Balkanci F. JAK2V617F mutation in patients with portal vein thrombosis. Dig Dis Sci. 2008 Oct;53(10):2778-83. doi: 10.1007/s10620-008-0225-y.
  • Fouassier M, Girodon F, Cleyrat C, Robillard N, Garand R, Hermouet S. Absence of JAK2-V617F in paroxysmal nocturnal haemoglobinuria-associated thrombosis. Thromb Haemost. 2009 Jul;102(1):180-2. doi: 10.1160/TH09-03-0140.
  • Lee E, Lee KJ, Park H, Chung JY, Lee MN, Chang MH, Yoo J, Lee H, Kong SY, Eom HS. Clinical implications of quantitative JAK2 V617F analysis using droplet digital PCR in myeloproliferative neoplasms. Ann Lab Med. 2018 Mar;38(2):147-54. doi: 10.3343/alm.2018.38.2.147.
  • Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2020 Dec;95(12):1599-613. doi: 10.1002/ajh.26008.
  • Tefferi A. Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2021 Jan;96(1):145-62. doi: 10.1002/ajh.26050.
  • Moliterno AR, Kaizer H. Applied genomics in MPN presentation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):434-9. doi: 10.1182/hematology.2020000128.
  • Zhang Y, Zhou Y, Wang Y, Teng G, Li D, Wang Y, Du C, Chen Y, Zhang H, Li Y, Fu L, Chen K, Bai J. Thrombosis among 1537 patients with JAK2V617F -mutated myeloproliferative neoplasms: Risk factors and development of a predictive model. Cancer Med. 2020 Mar;9(6):2096-105. doi: 10.1002/cam4.2886.
  • Iurlo A, Cattaneo D, Bucelli C, Baldini L. New perspectives on polycythemia vera: From diagnosis to therapy. Int J Mol Sci. 2020 Aug 13;21(16):5805. doi: 10.3390/ijms21165805.
  • Kahraman CY, Sincan G, Tatar A. Evaluation of the relationship between janus kinase 2 mutational burden and clinical findings in adult myeloproliferative neoplasm patients. Med Bull Haseki. 2022;60:26-32. doi: 10.4274/haseki.galenos.2021.7530.

Assessment of relation between JAK2 gene and thrombosis in myeloproliferative neoplasms

Yıl 2022, Cilt: 4 Sayı: 3, 112 - 120, 29.07.2022

Selda Kahraman Fatih Demirkan

https://doi.org/10.46310/tjim.1055305

Öz

Background Thrombotic complications are the most considerable etiology causing morbidity and mortality in patients with philadelphia (Ph) negative myeloproliferative neoplasms (MPN). There are many studies evaluating the association of JAK2 mutation and risk of thrombosis in MPN with inconclusive results. We also investigated the relation between JAK2 mutation in all Ph negative MPN and thrombosis.
Material and Methods Thrombotic events and demographic features of 177 patients with Ph negative MPN were evaluated retrospectively.
Results JAK2 V617 F mutation was detected in 57% of patients with essential thrombocythemia (ET), %90.3 of pateints with polycythemia vera (PV), 100% of pateints with primary myelofibrosis (PMF). Thrombotic complications occured more frequently with JAK2 mutation in all MPN patients than without (p=0.014). In JAK 2 mutation positive groups, the median age, thrombosis risk scores and leucocyte values are higher, splenomegaly and arterial and/or venous thrombosis are detected more frequently (p<0.05). In subgroup analysis, there is a significant difference found in JAK 2 positive ET patients and negative group in case of thrombosis (p=0.023).
Conclusions JAK2 mutation and monitoring for thrombotic events should be performed in all MPN patients.

Anahtar Kelimeler

Thrombosis myeloproliferative neoplasms, essential thrombocytemia, polycythemia vera

Kaynakça

  • Yönal İ, Dağlar-Aday A, Akadam-Teker B, Yılmaz C, Nalçacı M, Yavuz AS, Sargın FD. Impact of JAK2V617F mutational status on phenotypic features in essential thrombocythemia and primary myelofibrosis. Turk J Haematol. 2016 Jun 5;33(2):94-101. doi: 10.4274/tjh.2014.0136.
  • Passamonti F, Rumi E, Pungolino E, Malabarba L, Bertazzoni P, Valentini M, Orlandi E, Arcaini L, Brusamolino E, Pascutto C, Cazzola M, Morra E, Lazzarino M. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med. 2004 Nov 15;117(10):755-61. doi: 10.1016/j.amjmed.2004.06.032.
  • Cervantes F, Passamonti F, Barosi G. Life expectancy and prognostic factors in the classic BCR/ABL-negative myeloproliferative disorders. Leukemia. 2008 May;22(5):905-14. doi: 10.1038/leu.2008.72.
  • Carobbio A, Finazzi G, Guerini V, Spinelli O, Delaini F, Marchioli R, Borrelli G, Rambaldi A, Barbui T. Leukocytosis is a risk factor for thrombosis in essential thrombocythemia: interaction with treatment, standard risk factors, and Jak2 mutation status. Blood. 2007 Mar 15;109(6):2310-3. doi: 10.1182/blood-2006-09-046342.
  • Carobbio A, Antonioli E, Guglielmelli P, Vannucchi AM, Delaini F, Guerini V, Finazzi G, Rambaldi A, Barbui T. Leukocytosis and risk stratification assessment in essential thrombocythemia. J Clin Oncol. 2008 Jun 1;26(16):2732-6. doi: 10.1200/JCO.2007.15.3569.
  • Passamonti F, Rumi E, Arcaini L, Boveri E, Elena C, Pietra D, Boggi S, Astori C, Bernasconi P, Varettoni M, Brusamolino E, Pascutto C, Lazzarino M. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica. 2008 Nov;93(11):1645-51. doi: 10.3324/haematol.13346.
  • Palandri F, Catani L, Testoni N, Ottaviani E, Polverelli N, Fiacchini M, De Vivo A, Salmi F, Lucchesi A, Baccarani M, Vianelli N. Long-term follow-up of 386 consecutive patients with essential thrombocythemia: safety of cytoreductive therapy. Am J Hematol. 2009 Apr;84(4):215-20. doi: 10.1002/ajh.21360.
  • Gangat N, Wolanskyj AP, Schwager SM, Hanson CA, Tefferi A. Leukocytosis at diagnosis and the risk of subsequent thrombosis in patients with low-risk essential thrombocythemia and polycythemia vera. Cancer. 2009 Dec 15;115(24):5740-5. doi: 10.1002/cncr.24664.
  • Landolfi R, Di Gennaro L, Barbui T, De Stefano V, Finazzi G, Marfisi R, Tognoni G, Marchioli R; European Collaboration on Low-Dose Aspirin in Polycythemia Vera (ECLAP). Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood. 2007 Mar 15;109(6):2446-52. doi: 10.1182/blood-2006-08-042515.
  • Marchioli R, Finazzi G, Landolfi R, Kutti J, Gisslinger H, Patrono C, Marilus R, Villegas A, Tognoni G, Barbui T. Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol. 2005 Apr 1;23(10):2224-32. doi: 10.1200/JCO.2005.07.062.
  • Royer Y, Staerk J, Costuleanu M, Courtoy PJ, Constantinescu SN. Janus kinases affect thrombopoietin receptor cell surface localization and stability. J Biol Chem. 2005 Jul 22;280(29):27251-61. doi: 10.1074/jbc.M501376200.
  • Sirhan S, Fairbanks VF, Tefferi A. Red cell mass and plasma volume measurements in polycythemia: evaluation of performance and practical utility. Cancer. 2005 Jul 1;104(1):213-5. doi: 10.1002/cncr.21105.
  • Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ, Gilliland DG, Tefferi A. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol. 2005 Oct;131(2):208-13. doi: 10.1111/j.1365-2141.2005.05764.x.
  • Kralovics R, Teo SS, Buser AS, Brutsche M, Tiedt R, Tichelli A, Passamonti F, Pietra D, Cazzola M, Skoda RC. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood. 2005 Nov 15;106(10):3374-6. doi: 10.1182/blood-2005-05-1889.
  • Robertson B, Urquhart C, Ford I, Townend J, Watson HG, Vickers MA, Greaves M. Platelet and coagulation activation markers in myeloproliferative diseases: relationships with JAK2 V6I7 F status, clonality, and antiphospholipid antibodies. J Thromb Haemost. 2007 Aug;5(8):1679-85. doi: 10.1111/j.1538-7836.2007.02626.x.
  • Lussana F, Caberlon S, Pagani C, Kamphuisen PW, Büller HR, Cattaneo M. Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. Thromb Res. 2009 Sep;124(4):409-17. doi: 10.1016/j.thromres.2009.02.004.
  • Cervantes F, Passamonti F, Barosi G. Life expectancy and prognostic factors in the classic BCR/ABL-negative myeloproliferative disorders. Leukemia. 2008 May;22(5):905-14. doi: 10.1038/leu.2008.72.
  • Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol. 2005 Feb;128(3):275-90. doi: 10.1111/j.1365-2141.2004.05277.x.
  • Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A, Ferrari M, Gisslinger H, Kralovics R, Cremonesi L, Skoda R, Cazzola M. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood. 2008 Feb 1;111(3):1686-9. doi: 10.1182/blood-2007-07-101576.
  • Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gäken J, Wendon J, Heaton ND, Mufti GJ. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology. 2006 Jun;130(7):2031-8. doi: 10.1053/j.gastro.2006.04.008.
  • Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, et.al.; United Kingdom Myeloproliferative Disorders Study Group; Medical Research Council Adult Leukaemia Working Party; Australasian Leukaemia and Lymphoma Group. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005 Dec 3;366(9501):1945-53. doi: 10.1016/S0140-6736(05)67785-9.
  • Finazzi G, Caruso V, Marchioli R, Capnist G, Chisesi T, Finelli C, Gugliotta L, Landolfi R, Kutti J, Gisslinger H, Marilus R, Patrono C, Pogliani EM, Randi ML, Villegas A, Tognoni G, Barbui T; ECLAP Investigators. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood. 2005 Apr 1;105(7):2664-70. doi: 10.1182/blood-2004-09-3426.
  • Levy DE, Darnell JE Jr. Stats: transcriptional control and biological impact. Nat Rev Mol Cell Biol. 2002 Sep;3(9):651-62. doi: 10.1038/nrm909.
  • Bayraktar Y, Harmanci O, Büyükasik Y, Shorbagi AI, Sungur AH, Boylu CA, Gürgey A, Balkanci F. JAK2V617F mutation in patients with portal vein thrombosis. Dig Dis Sci. 2008 Oct;53(10):2778-83. doi: 10.1007/s10620-008-0225-y.
  • Fouassier M, Girodon F, Cleyrat C, Robillard N, Garand R, Hermouet S. Absence of JAK2-V617F in paroxysmal nocturnal haemoglobinuria-associated thrombosis. Thromb Haemost. 2009 Jul;102(1):180-2. doi: 10.1160/TH09-03-0140.
  • Lee E, Lee KJ, Park H, Chung JY, Lee MN, Chang MH, Yoo J, Lee H, Kong SY, Eom HS. Clinical implications of quantitative JAK2 V617F analysis using droplet digital PCR in myeloproliferative neoplasms. Ann Lab Med. 2018 Mar;38(2):147-54. doi: 10.3343/alm.2018.38.2.147.
  • Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2020 Dec;95(12):1599-613. doi: 10.1002/ajh.26008.
  • Tefferi A. Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2021 Jan;96(1):145-62. doi: 10.1002/ajh.26050.
  • Moliterno AR, Kaizer H. Applied genomics in MPN presentation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):434-9. doi: 10.1182/hematology.2020000128.
  • Zhang Y, Zhou Y, Wang Y, Teng G, Li D, Wang Y, Du C, Chen Y, Zhang H, Li Y, Fu L, Chen K, Bai J. Thrombosis among 1537 patients with JAK2V617F -mutated myeloproliferative neoplasms: Risk factors and development of a predictive model. Cancer Med. 2020 Mar;9(6):2096-105. doi: 10.1002/cam4.2886.
  • Iurlo A, Cattaneo D, Bucelli C, Baldini L. New perspectives on polycythemia vera: From diagnosis to therapy. Int J Mol Sci. 2020 Aug 13;21(16):5805. doi: 10.3390/ijms21165805.
  • Kahraman CY, Sincan G, Tatar A. Evaluation of the relationship between janus kinase 2 mutational burden and clinical findings in adult myeloproliferative neoplasm patients. Med Bull Haseki. 2022;60:26-32. doi: 10.4274/haseki.galenos.2021.7530.
Toplam 32 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular İç Hastalıkları
Bölüm Original Articles
Yazarlar

Selda Kahraman 0000-0002-8706-2874

Fatih Demirkan 0000-0002-1172-8668

Yayımlanma Tarihi 29 Temmuz 2022
Gönderilme Tarihi 13 Ocak 2022
Kabul Tarihi 21 Nisan 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 4 Sayı: 3

Kaynak Göster

EndNote Kahraman S, Demirkan F (01 Temmuz 2022) Assessment of relation between JAK2 gene and thrombosis in myeloproliferative neoplasms. Turkish Journal of Internal Medicine 4 3 112–120.
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