Approach to the Diagnosis and Management of Essential Thrombocytosis in a Resource-Limited Setting
DOI:
https://doi.org/10.54536/ajmsi.v3i1.2312Keywords:
Essential Thrombocytosis, Myeloproliferative Neoplasms, Hydroxyurea, Aspirin, Hydroxyurea-Induced Neutropenia, Vasomotor Symptoms, Thrombo-Hemorrhagic Complications, KenyaAbstract
Essential thrombocytosis (ET) is a myeloproliferative neoplasm (together with polycythemia vera, chronic myelogenous leukemia, and primary myelofibrosis) characterized by clonal proliferation of megakaryocytes, usually due to the presence of JAK2, CALR, or MPL mutations. Whereas a bone marrow aspirate and genetic testing for these mutations are necessary for an accurate diagnosis of ET, in resource-limited settings, these are often either inaccessible or limited by prohibitive costs. A nuanced clinical approach is necessary to diagnose and manage ET in these settings. In this study, we present a case of ET diagnosed and managed in a resource-limited rural setting in Kenya with hydroxyurea and aspirin. We highlight the importance of individualized therapeutic targets, the challenges with dose adjustments in the setting of hydroxyurea-induced neutropenia, and how extrapolated data from the use of hydroxyurea elsewhere may help guide such dose adjustments. Finally, we propose a rationalized approach to treating ET in a resource-limited clinical setting.
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Antonioli, E., Guglielmelli, P., Pieri, L., Finazzi, M., Rumi, E., Martinelli, V., Vianelli, N., Luigia Randi, M., Bertozzi, I., De Stefano, V., Za, T., Rossi, E., Ruggeri, M., Elli, E., Cacciola, R., Cacciola, E., Pogliani, E., Rodeghiero, F., Baccarani, M., . . . Vannucchi, A. M. (2012). Hydroxyurea-related toxicity in 3,411 patients with Ph’-negative MPN. Am J Hematol, 87(5), 552-554. https://doi.org/10.1002/ajh.23160
Arber, D. A., Orazi, A., Hasserjian, R., Thiele, J., Borowitz, M. J., Le Beau, M. M., Bloomfield, C. D., Cazzola, M., & Vardiman, J. W. (2016). The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 127(20), 2391-2405. https://doi.org/10.1182/blood-2016-03-643544
Arber, D. A., Orazi, A., Hasserjian, R. P., Borowitz, M. J., Calvo, K. R., Kvasnicka, H. M., Wang, S. A., Bagg, A., Barbui, T., Branford, S., Bueso-Ramos, C. E., Cortes, J. E., Dal Cin, P., DiNardo, C. D., Dombret, H., Duncavage, E. J., Ebert, B. L., Estey, E. H., Facchetti, F., . . . Tefferi, A. (2022). International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood, 140(11), 1200-1228. https://doi.org/10.1182/blood.2022015850
Barbui, T., Vannucchi, A. M., Buxhofer-Ausch, V., De Stefano, V., Betti, S., Rambaldi, A., Rumi, E., Ruggeri, M., Rodeghiero, F., Randi, M. L., Bertozzi, I., Gisslinger, H., Finazzi, G., Carobbio, A., Thiele, J., Passamonti, F., Falcone, C., & Tefferi, A. (2015). Practice-relevant revision of IPSET-thrombosis based on 1019 patients with WHO-defined essential thrombocythemia. Blood Cancer J, 5(11), e369. https://doi.org/10.1038/bcj.2015.94
Bellucci, S., Janvier, M., Tobelem, G., Flandrin, G., Charpak, Y., Berger, R., & Boiron, M. (1986). Essential thrombocythemias. Clinical evolutionary and biological data. Cancer, 58(11), 2440-2447.
Birgegård, G. (2016). The Use of Anagrelide in Myeloproliferative Neoplasms, with Focus on Essential Thrombocythemia. Curr Hematol Malig Rep, 11(5), 348-355. https://doi.org/10.1007/s11899-016-0335-0
Cazzola, M., & Kralovics, R. (2014). From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. Blood, 123(24), 3714-3719. https://doi.org/10.1182/blood-2014-03-530865
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, E. M., Randi, M. L., Villegas, A., Tognoni, G., & Barbui, T. (2005). Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood, 105(7), 2664-2670. https://doi.org/10.1182/blood-2004-09-3426
Hernández-Boluda, J. C., Alvarez-Larrán, A., Gómez, M., Angona, A., Amat, P., Bellosillo, B., Martínez-Avilés, L., Navarro, B., Teruel, A., Martínez-Ruiz, F., & Besses, C. (2011). Clinical evaluation of the European LeukaemiaNet criteria for clinicohaematological response and resistance/intolerance to hydroxycarbamide in essential thrombocythaemia. Br J Haematol, 152(1), 81-88. https://doi.org/10.1111/j.1365-2141.2010.08430.x
Hultcrantz, M., Wilkes, S. R., Kristinsson, S. Y., Andersson, T. M., Derolf Å, R., Eloranta, S., Samuelsson, J., Landgren, O., Dickman, P. W., Lambert, P. C., & Björkholm, M. (2015). Risk and Cause of Death in Patients Diagnosed With Myeloproliferative Neoplasms in Sweden Between 1973 and 2005: A Population-Based Study. J Clin Oncol, 33(20), 2288-2295. https://doi.org/10.1200/jco.2014.57.6652
Klampfl, T., Gisslinger, H., Harutyunyan, A. S., Nivarthi, H., Rumi, E., Milosevic, J. D., Them, N. C., Berg, T., Gisslinger, B., Pietra, D., Chen, D., Vladimer, G. I., Bagienski, K., Milanesi, C., Casetti, I. C., Sant’Antonio, E., Ferretti, V., Elena, C., Schischlik, F., . . . Kralovics, R. (2013). Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med, 369(25), 2379-2390. https://doi.org/10.1056/NEJMoa1311347
Landolfi, R., Cipriani, M. C., & Novarese, L. (2006). Thrombosis and bleeding in polycythemia vera and essential thrombocythemia: pathogenetic mechanisms and prevention. Best Pract Res Clin Haematol, 19(3), 617-633. https://doi.org/10.1016/j.beha.2005.07.011
Luchtman-Jones, L., Pressel, S., Hilliard, L., Brown, R. C., Smith, M. G., Thompson, A. A., Lee, M. T., Rothman, J., Rogers, Z. R., Owen, W., Imran, H., Thornburg, C., Kwiatkowski, J. L., Aygun, B., Nelson, S., Roberts, C., Gauger, C., Piccone, C., Kalfa, T., . . . Ware, R. E. (2016). Effects of hydroxyurea treatment for patients with hemoglobin SC disease. Am J Hematol, 91(2), 238-242. https://doi.org/10.1002/ajh.24255
McGann, P. T., Tshilolo, L., Santos, B., Tomlinson, G. A., Stuber, S., Latham, T., Aygun, B., Obaro, S. K., Olupot-Olupot, P., Williams, T. N., Odame, I., & Ware, R. E. (2016). Hydroxyurea Therapy for Children With Sickle Cell Anemia in Sub-Saharan Africa: Rationale and Design of the REACH Trial. Pediatr Blood Cancer, 63(1), 98-104. https://doi.org/10.1002/pbc.25705
McGann, P. T., & Ware, R. E. (2015). Hydroxyurea therapy for sickle cell anemia. Expert Opin Drug Saf, 14(11), 1749-1758. https://doi.org/10.1517/14740338.2015.1088827
Nielsen, C., Birgens, H. S., Nordestgaard, B. G., & Bojesen, S. E. (2013). Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population. Br J Haematol, 160(1), 70-79. https://doi.org/10.1111/bjh.12099
Roaldsnes, C., Holst, R., Frederiksen, H., & Ghanima, W. (2017). Myeloproliferative neoplasms: trends in incidence, prevalence and survival in Norway. Eur J Haematol, 98(1), 85-93. https://doi.org/10.1111/ejh.12788
Rocca, B., Tosetto, A., Betti, S., Soldati, D., Petrucci, G., Rossi, E., Timillero, A., Cavalca, V., Porro, B., Iurlo, A., Cattaneo, D., Bucelli, C., Dragani, A., Di Ianni, M., Ranalli, P., Palandri, F., Vianelli, N., Beggiato, E., Lanzarone, G., . . . De Stefano, V. (2020). A randomized double-blind trial of 3 aspirin regimens to optimize antiplatelet therapy in essential thrombocythemia. Blood, 136(2), 171-182. https://doi.org/10.1182/blood.2019004596
Schafer, A. I. (2004). Thrombocytosis. N Engl J Med, 350(12), 1211-1219. https://doi.org/10.1056/NEJMra035363
Shen, C. L., Hsieh, T. C., Wang, T. F., Huang, W. H., Chu, S. C., & Wu, Y. F. (2021). Designing a Scoring System for Differential Diagnosis From Reactive Thrombocytosis and Essential Thrombocytosis. Front Med (Lausanne), 8, 736150. https://doi.org/10.3389/fmed.2021.736150
Srour, S. A., Devesa, S. S., Morton, L. M., Check, D. P., Curtis, R. E., Linet, M. S., & Dores, G. M. (2016). Incidence and patient survival of myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms in the United States, 2001-12. Br J Haematol, 174(3), 382-396. https://doi.org/10.1111/bjh.14061
Tefferi, A., & Barbui, T. (2017). Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol, 92(1), 94-108. https://doi.org/10.1002/ajh.24607
Tefferi, A., & Barbui, T. (2020). Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management. Am J Hematol, 95(12), 1599-1613. https://doi.org/10.1002/ajh.26008
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. https://doi.org/10.1038/leu.2014.3
Tefferi, A., & Pardanani, A. (2019). Essential Thrombocythemia. N Engl J Med, 381(22), 2135-2144. https://doi.org/10.1056/NEJMcp1816082
Wang, W. C., Ware, R. E., Miller, S. T., Iyer, R. V., Casella, J. F., Minniti, C. P., Rana, S., Thornburg, C. D., Rogers, Z. R., Kalpatthi, R. V., Barredo, J. C., Brown, R. C., Sarnaik, S. A., Howard, T. H., Wynn, L. W., Kutlar, A., Armstrong, F. D., Files, B. A., Goldsmith, J. C., . . . Thompson, B. W. (2011). Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet, 377(9778), 1663-1672. https://doi.org/10.1016/s0140-6736(11)60355-3
Wolanskyj, A. P., Lasho, T. L., Schwager, S. M., McClure, R. F., Wadleigh, M., Lee, S. J., Gilliland, D. G., & Tefferi, A. (2005). JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol, 131(2), 208-213. https://doi.org/10.1111/j.1365-2141.2005.05764.x
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Copyright (c) 2024 Vonwicks C. Onyango, Anne W. Theuri, Samuel M. Gachie, Collins P. Malalu, William C. Fryda
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