Clinical features of essential thrombocythemia and primary myelofibrosis, depending on the molecular characteristics of disease

Melikjan A.L.; Subortseva I.N.; Sudarikov A.B.; Kovrigina A.M.; Giliazitdinova E.A.; Kolosheĭnova T.I.; Abdullaev A.O.; Treglazova S.A.

doi:https://doi.org/10.17116/terarkh20178974-9

Melikjan A.L.

GBOU VPO «Pervyj MGMU im. I.M. Sechenova» Minzdrava Rossii, Moskva

Subortseva I.N.

FGBU "Gematologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Sudarikov A.B.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava Rossii, Moskva

Kovrigina A.M.

Nauchno-klinicheskoe otdelenie gematologicheskoĭ khirurgii Gematologicheskogo nauchnogo tsentra Minzdrava RF, Moskva

Giliazitdinova E.A.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava RF, Moskva

Kolosheĭnova T.I.

FGBU "Gematologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Abdullaev A.O.

FGBU "Gematologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Treglazova S.A.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Clinical features of essential thrombocythemia and primary myelofibrosis, depending on the molecular characteristics of disease

Authors:

Melikjan A.L., Subortseva I.N., Sudarikov A.B., Kovrigina A.M., Giliazitdinova E.A., Kolosheĭnova T.I., Abdullaev A.O., Treglazova S.A.

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Journal: Therapeutic Archive. 2017;89(7): 4‑9

DOI: 10.17116/terarkh20178974-9

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To cite this article:

Melikjan AL, Subortseva IN, Sudarikov AB, et al. . Clinical features of essential thrombocythemia and primary myelofibrosis, depending on the molecular characteristics of disease. Therapeutic Archive. 2017;89(7):4‑9. (In Russ.)
https://doi.org/10.17116/terarkh20178974-9

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Immunohistochemical method of megakaryocytic lineage staining in bone marrow biopsy specimens as an additional pathomorphological differential diagnostic sign of primary myelofibrosis and essential thrombocythemia. Russian Journal of Archive of Pathology. 2025;(1):22-27

Abstract:

The aim of the present paper was to evaluate the clinical features and risk of thrombotic events (TE) in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF), depending on the molecular characteristics of disease. Clinical data and laboratory parameters were analyzed in 50 ET patients and 50 PMF ones who had been followed up at the Department for Standardization of Treatments, National Research Center for Hematology, Ministry of Health of the Russian Federation, from February 2015 to September 2016. The patients with ET and those with PMF were found to have a high risk of TE. The risk for TE in the patients with ET is higher (24% in the entire group) than in those with PMF (14% in the study group). In ET, there is a high thrombosis risk in the detection of JAK2 and CALR gene mutations as compared with triple-negative cases. The PMF patients with JAK2 V617F mutations are at high risk for TE compared to those who are CALR mutation carriers and in triple-negative cases. There was no significant association of TE with high thrombocytosis. A factor, such as age, was found to be of no negative prognostic value in the patients with PMF.

Keywords:

chronic myeloproliferative diseases

essential thrombocythemia

primary myelofibrosis

thrombotic complications

JAK2V617F

CALR

MPL

Authors:

Melikjan A.L.

GBOU VPO «Pervyj MGMU im. I.M. Sechenova» Minzdrava Rossii, Moskva

Subortseva I.N.

FGBU "Gematologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Sudarikov A.B.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava Rossii, Moskva

Kovrigina A.M.

Nauchno-klinicheskoe otdelenie gematologicheskoĭ khirurgii Gematologicheskogo nauchnogo tsentra Minzdrava RF, Moskva

Giliazitdinova E.A.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava RF, Moskva

Kolosheĭnova T.I.

FGBU "Gematologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Abdullaev A.O.

FGBU "Gematologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Treglazova S.A.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

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References:

Melikyan A, Turkina A, Abdulkadyrov K, Zaritsky A, Afanasyev B, Shuvaev V, Lomaia E, Morozova E, Baikov V, Golenkov A, Subortseva I, Sokolova M, Kovrigina A, Martynkevich I, Gritsaev S, Sudarikov A, Sukhanova G, Ivanova V, Kaplanov K, Konstantinova T, Pospelova T, Ageeva T, Shatokhin Yu, Savchenko V. Clinical recommendations for diagnosis and therapy of Ph-negative myeloproliferative diseases (polycythemia vera, essential thrombocythemia, primary myelofibrosis). Gematologiya i transfuziologiya. 2014;59(4):31-56. (In Russ.)
Melikyan A, Subortseva I. Biology myeloproliferative diseases. Klinicheskaya onkogematologiya. 2016;9(3):314-325. (In Russ.)
Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia. 2007;21(9):1960-1963. https://doi.org/10.1038/sj.leu.2404810
Vannucchi A.M., Antonioli E., Guglielmelli P., Pardanani A., Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: A critical reappraisal. Leukemia. 2008;22(7):1299-1307. https://doi.org/10.1038/leu.2008.113
Treglazova S, Abdullaev A, Makarik T, Subortseva I, Melikyan A, Sudarikov A. The study of mutations JAK2V617F, MPL W515L/K and exon 9 CALR in patients with essential thrombocythemia. Gematologiya i transfuziologiya. 2016;61(1):74. (In Russ.)
Tefferi A, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R, Reilly JT, Gisslinger H, Vannucchi AM, Cervantes F, Finazzi G, Hoffman R, Gilliland DG, Bloomfield CD, Vardiman JW. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: Recommendations from an ad hoc international expert panel. Blood. 2007;110(4):1092-1097 https://doi.org/10.1182/blood-2007-04-083501
Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, Duffy A, Boyd EM, Bench AJ, Scott MA, Vassiliou GS, Milligan DW, Smith SR, Erber WN, Bareford D, Wilkins BS, Reilly JT, Harrison CN, Green AR. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2V617F mutation status: a prospective study. The Lancet. 2005. 366(9501);1945-1953. https://doi.org/10.1016/S0140-6736(05)67785-9
Pardanani A, Lasho TL, Finke CM, Tefferi A. Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia vera myelofibrosis. Am J Hematol. 2011;86(8):701-702. https://doi.org/10.1002/ajh.22058
Ohashi H, Arita K, Fukami S, Oguri K, Nagai H, Yokozawa T, Hotta T, Hanada S. Two rare MPL gene mutations in patients with essential thrombocythemia. Int J Hematol. 2009;90(3):431-432. https://doi.org/10.1007/s12185-009-0413-3
Beer PA, Campbell PJ, Bench AJ, Erber WN, Bareford D, Wilkins BS, Reilly JT, Hasselbalch HC, Bowman R, Wheatley K, Buck G, Harrison CN, Green AR. MPL mutations in myeloproliferative disorders: Analysis of the PT-1 cohort. Blood. 2008;112(1):141-149. https://doi.org/10.1182/blood-2008-01-131664
Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, Tsuboi K, Nitta M, Miyazaki H, Iida S, Ueda R. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood. 2004;103(11):4198-4200. https://doi.org/10.1182/blood-2003-10-3471
Liu K, Martini M, Rocca B, Amos CI, Teofili L, Giona F, Ding J, Komatsu H, Larocca LM, Skoda RC. Evidence for a founder effect of the MPLS505N mutation in eight Italian pedigrees with hereditary thrombocythemia. Haematologica. 2009;94(10):1368-1374. https://doi.org/10.3324/haematol.2009.005918.
Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJ, Harrison CN, Cross NC, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR. Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2. N Engl J Med. 2013;369(25):2391-405. https://doi.org/10.1056/NEJMoa1312542
Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NCC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer G I, Bagienski K, Milanesi C, Carola Casetti I, Sant’Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 2013;369(25):2379-2390. https://doi.org/10.1056/NEJMoa1311347
Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, Roncoroni E, Astori C, Merli M, Boggi S, Pascutto C, Lazzarino M, Cazzola M. A prospective study of 338 patients with polycythemia vera: The impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24(9):1574-1579. https://doi.org/10.1038/leu.2010.148
Barbui T, Finazzi G, Falanga A. Myeloproliferative neoplasms and thrombosis. Blood. 2013;122(13):2176-2184 https://doi.org/10.1182/blood-2013-03-460154
Melikyan A, Subortseva I. Materials of the 56th Congress of the American Society of Hematology (December 2014, San Francisco). Klinicheskaya onkogematologiya. Fundamental'nye issledovaniya i klinicheskaya praktika. 2015;8(2):201-232. (In Russ.)
Barbui T, Finazzi G, Carobbio A, Thiele J, Passamonti F, Rumi E, Ruggeri M, Rodeghiero F, Randi ML, Bertozzi I, Gisslinger H, Buxhofer-Ausch V, De Stefano V, Betti S, Rambaldi A, Vannucchi AM, Tefferi A. Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). Blood. 2012;120(26):5128-5133. https://doi.org/10.1182/blood-2012-07-444067
Melikyan A, Subortseva I. Materials of the 19th Congress of the European Hematology Association (2014, Milan). Klinicheskaya onkogematologiya. Fundamental'nye issledovaniya i klinicheskaya praktika. 2014;7(4):598-607. (In Russ.)