Essential Thrombocythemia Following Immune Thrombocytopenia With JAK2 V617F Mutation: A Case Report
Abstract
Immune Thrombocytopenia (ITP) is an autoimmune bleeding disorder. Tyrosine Kinase JAK2 (JAK2 V617F) mutation occurs in nearly 60% of Essential Thrombocythemia (ET) patients. Both diseases produce impaired platelet. We describe a case with ET following ITP. So far, only 3 reports described ET following ITP. We report the fourth patient with JAK2 V617F mutation at the onset of ITP presented 20 years ago that needed splenectomy. The association of these two diseases may recommend similar pathogenic mechanisms between Myeloproliferative Neoplasms (MPNs) and ITP that should be further explored.
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[14] Gonzalez MS, De Brasi CD, Bianchini M, Gargallo P, Stanganelli C, Zalcberg I, et al. Improved diagnosis of the transition to JAK2V617F homozygosity: The key feature for predicting the evolution of myeloproliferative neoplasms. PloS One. 2014; 9(1):e86401. [DOI:10.1371/journal.pone.0086401] [PMID] [PMCID]
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[17] Huang CE, Chen YY, Liu JL, Ho HY, Li CP, Chen CC. JAK2V617F mu- tation in immune thrombocytopenia. Thrombosis Research. 2016; 144:149-51. [DOI:10.1016/j.thromres.2016.06.019] [PMID]
[18] Caocci G, Atzeni S, Usai M, La Nasa G. Essential thrombocytemia following immune thrombocytopenia with JAK2V617F muta- tion. Leukemia Research Reports. 2018; 9:14-5. [DOI:10.1016/j. lrr.2017.12.002] [PMID] [PMCID]
[2] Dos Santos LC, Ribeiro JC, Silva NP, Cerutti J, da Silva MR, de Lourdes Lopes Ferrari Chauffaille M. Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombo- cythemia. Revista Brasileira de Hematologia e Hemoterapia. 2011; 33(6):417-24. [DOI:10.5581/1516-8484.20110116] [PMID] [PMCID]
[3] Rampal R, Al-Shahrour F, Abdel-Wahab O, Patel JP, Brunel JP, Mer- mel CH, et al. Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neo- plasm pathogenesis. Blood. 2014; 123(22):e123-33. [DOI:10.1182/ blood-2014-02-554634] [PMID] [PMCID]
[4] Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005; 7(4):387-97. [DOI:10.1016/j. ccr.2005.03.023] [PMID]
[5] Carobbio A, Finazzi G, Guerini V, Spinelli O, Delaini F, Marchioli R, et al. Leukocytosis is a risk factor for thrombosis in essential throm- bocythemia: Interaction with treatment, standard risk factors, and Jak2 mutation status. Blood. 2007; 109(6):2310-3. [DOI:10.1182/ blood-2006-09-046342] [PMID]
[6] Schafer AI. Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia. Blood. 2006; 107(11):4214-22. [DOI:10.1182/blood-2005-08-3526] [PMID]
[7] Gernsheimer T. Chronic idiopathic thrombocytopenic purpura: Mechanisms of pathogenesis. The Oncologist. 2009; 14(1):12-21. [DOI:10.1634/theoncologist.2008-0132] [PMID]
[8] Sobas MA, Wróbel T, Zduniak K, Podolak-Dawidziak M, Rybka J, Biedroń M, et al. Immune thrombocytopenia and JAK2V617F positive essential thrombocythemia: Literature review and case report. Case Reports in Hematology. 2017; 2017:3725089. [DOI:10.1155/2017/3725089] [PMID] [PMCID]
[9] Rodeghiero F, Stasi R, Gernsheimer T, Michel M, Provan D, Arnold DM, et al. Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and chil- dren: Report from an international working group. Blood. 2009; 113(11):2386-93. [DOI:10.1182/blood-2008-07-162503] [PMID]
[10] Agarwal S, Jajodia N, Laksmi S, Kandpal P. Idiopathic Thrombocy- topenic Purpura (ITP): A case report. International Healthcare Re- search Journal. 2017; 1(10):315-9. [DOI:10.26440/IHRJ/01_10/137]
[11] Shan NN, Zhu XJ, Peng J, Qin P, Zhuang XW, Wang HC, et al. Interleu- kin 18 and interleukin 18 binding protein in patients with idiopathic thrombocytopenic purpura. British Journal of Haematology. 2009; 144(5):755-61. [DOI:10.1111/j.1365-2141.2008.07520.x] [PMID]
[12] George JN. Thrombocytopenia due to enhanced platelet destruc- tion by immunologic mechanisms. New York: Williams Hematology; 1995. https://ci.nii.ac.jp/naid/10029533888/
[13] Thiele J, Kvasnicka HM. The 2008 WHO diagnostic criteria for poly- cythemia vera, essential thrombocythemia, and primary myelofi- brosis. Current Hematologic Malignancy Reports. 2009; 4(1):33-40. [DOI:10.1007/s11899-009-0005-6] [PMID]
[14] Gonzalez MS, De Brasi CD, Bianchini M, Gargallo P, Stanganelli C, Zalcberg I, et al. Improved diagnosis of the transition to JAK2V617F homozygosity: The key feature for predicting the evolution of myeloproliferative neoplasms. PloS One. 2014; 9(1):e86401. [DOI:10.1371/journal.pone.0086401] [PMID] [PMCID]
[15] Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. The New England Journal of Medicine. 2014; 371(26):2477-87. [DOI:10.1056/NEJMoa1409405] [PMID] [PMCID]
[16] Kristinsson SY, Landgren O, Samuelsson J, Björkholm M, Goldin LR. Autoimmunity and the risk of myeloproliferative neoplasms. Haematologica. 2010; 95(7):1216-20. [DOI:10.3324/haema- tol.2009.020412] [PMID] [PMCID]
[17] Huang CE, Chen YY, Liu JL, Ho HY, Li CP, Chen CC. JAK2V617F mu- tation in immune thrombocytopenia. Thrombosis Research. 2016; 144:149-51. [DOI:10.1016/j.thromres.2016.06.019] [PMID]
[18] Caocci G, Atzeni S, Usai M, La Nasa G. Essential thrombocytemia following immune thrombocytopenia with JAK2V617F muta- tion. Leukemia Research Reports. 2018; 9:14-5. [DOI:10.1016/j. lrr.2017.12.002] [PMID] [PMCID]
| Files | ||
| Issue | Vol 6 No 4 (2021): July-August | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v6i4.7853 | |
| Keywords | ||
| Jak2 mutation Essential thrombocythemia Immune thrombocytopenia | ||
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How to Cite
1.
Payandeh M, Aeinfar M, Dadashizadeh K, yari saba. Essential Thrombocythemia Following Immune Thrombocytopenia With JAK2 V617F Mutation: A Case Report. CRCP. 2021;6(4):141-144.
