403
Views
4
CrossRef citations to date
0
Altmetric
Review

Contemporary management of essential thrombocythemia in children

, &
Pages 367-373 | Received 24 Aug 2018, Accepted 28 Mar 2019, Published online: 27 Apr 2019

References

  • Matsubara K, Fukaya T, Nigami H, et al. Age-dependent changes in the incidence and etiology of childhood thrombocytosis. Acta Haematol. 2004;111:132–137.
  • Giona F, Teofili L, Moleti ML, et al. Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome. Blood. 2012;119:2219–2227.
  • Ghilardi N, Skoda RC. A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA. Blood. 1999;94:1480–1482.
  • Kondo T, Okabe M, Sanada M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5ʹ-untranslated region of the thrombopoietin gene. Blood. 1998;92:1091–1096.
  • Randi ML, Putti MC, Pacquola E, et al. Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia. Pediatr Blood Cancer. 2005;44:47–50.
  • Teofili L, Giona F, Torti L, et al. Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis. Haematologica. 2010;95:65–70.
  • Murphy S. Thrombocytosis and thrombocythemia. Clin Hematol. 1983;12:89–106.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classi fi cation of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–2406.
  • Rumi E, Boveri E, Bellini M, et al. Clinical course and outcome of essential thrombocythemia and prefibrotic myelofibrosis according to the revised WHO 2016 diagnostic criteria, on behalf of the associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Inv. Oncotarget. 2017;8:101735–101744.
  • Szuber N, Vallapureddy RR, Penna D, et al. Myeloproliferative neoplasms in the young: Mayo Clinic experience with 361 patients age 40 years or younger. Am J Hematol. 2018;93:1–11.
  • Randi ML, Geranio G, Bertozzi I, et al. Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort. Br J Haematol. 2015;169:584–589.
  • Cortelazzo S. Incidence and risk factors for thrombotic complications in a historical cohort of 100 patients with essential thrombocythemia. J Clin Oncol. 1990;8:556–562.
  • Cortelazzo S, Finazzi G, Ruggeri M, et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med. 1995;332:1132–1137.
  • Randi ML, Putti MC, Fabris F, et al. Features of essential thrombocythaemia in childhood: A study of five children. Br J Haematol. 2000;108:86–89.
  • Putti MC, Randi ML. Thrombotic complications in children with haematologic malignacies. Thromb Res. 2010;125(Suppl1):51–54.
  • Randi ML, Putti MC, Scapin M, et al. Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative. Blood. 2006;108:3600–3602.
  • Teofili L, Cenci T, Martini M, et al. The mutant JAK2 V617F allele burden in children with essential thrombocythemia. Br J Haematol. 2009;145:430–432.
  • Farruggia P, D’Angelo P, La Rosa M, et al. MPL W515L mutation in pediatric essential thrombocythemia. Pediatr Blood Cancer. 2013;60:E52–E54.
  • Tokgoz H, Caliskan U, Yüksekkaya HA, et al. Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome. Platelets. 2015;26:805–808.
  • Langabeer SE, Haslam K, Mcmahon C. CALR mutations are rare in childhood essential thrombocythemia. Pediatr Blood Cancer. 2014;61:1523.
  • Karow A, Nienhold R, Lundberg P, et al. Mutational profile of childhood myeloproliferative neoplasms. Leukemia. 2015;29:2407–2409.
  • Putti MC, Pizzi M, Bertozzi I, et al. Bone marrow histology for the diagnosis of essential thrombocythemia in children: A multicenter Italian study. Blood. 2017;129:954–956.
  • Kvasnicka HM, Orazi A, Thiele J, et al. European LeukemiaNet study on the reproducibility of bone marrow features in masked polycythemia vera and differentiation from essential thrombocythemia. Am J Hematol. 2017;92:1062–1067.
  • Randi ML, Putti MC. Essential thrombocythaemia in children: is a treatment needed?. Expert Opin Pharmacother. 2004;5:1009–1014.
  • Sutor H. Thrombocytosis. In: Pediatric Hematology, editors. Churchill Livingston; 1999. p. 455–464.
  • Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008;112:141–149.
  • Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369:2379–2390.
  • Kopp P, Jaggi R, Tobler A, et al. Clonal X-inactivation analysis of human tumours using the human androgen receptor gene (HUMARA) polymorphism: A non-radioactive and semiquantitative strategy applicable to fresh and archival tissue. Mol Cell Probes. 1997;11:217–228.
  • Barosi G, Tefferi A, Besses C, et al. Clinical end points for drug treatment trials in BCR-ABL1-negative classic myeloproliferative neoplasms: consensus statements from European LeukemiaNET (ELN) and Internation Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT). Leukemia. 2015;29:20–26.
  • Harrison CN, Bareford D, Butt N, et al. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol. 2010;149:352–375.
  • Thiele J, Kvasnicka HM, Zankovich R, et al. Relevance of bone marrow features in the differential diagnosis between essential thrembocythemia and early stage idiopathic myelofibrosis. Haematologica. 2000;85:1126–1134.
  • Barbui T, Thiele J, Passamonti F, et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: A international study. J Clin Oncol. 2011;29:3179–3184.
  • Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017;92:94–108.
  • Barbui T, Finazzi G, Carobbio A, et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). Blood. 2012;120:5128–5133.
  • Barbui T, Vannucchi AM, Buxhofer-Ausch V, et al. Practice-relevant revision of IPSET-thrombosis based on 1019 patients with WHO-defined essential thrombocythemia. Blood Cancer J. 2015;5:128–133.
  • Michiels JJ, Berneman Z, Schroyens W, et al. The paradox of platelet activation and impaired function: platelet-von Willebrand factor interactions, and the etiology of thrombotic and hemorrhagic manifestations in essential thrombocythemia and polycythemia vera. Semin Thromb Hemost. 2006;32:589–604.
  • Denninger MH, Chait Y, Casadevall N, et al. Cause of portal or hepatic venous thrombosis in adults: the role of multiple concurrent factors. Hepatology. 2000;31:587–591.
  • Barbui T. How to manage children and young adults with myeloproliferative neoplasms. Leukemia. 2012;26:1452–1457.
  • Marchioli R, Finazzi G, Specchia G, et al. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013;368:22–33.
  • Van Genderen PJJ, Budde U, Michiels JJ, et al. The reduction of large von Willebrand factor multimers in plasma in essential thrombocythaemia is related to the platelet count. Br J Haematol. 1996;93:372–380.
  • De Stefano V, Za T, Rossi E, et al. Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. Haematologica. 2008;93:372–380.
  • De Stefano V, Rocca B, Tosetto A, et al. The Aspirin Regimens in Essential Thrombocythemia (ARES) phase II randomized trial design: implementation of the serum thromboxane B2assay as an evaluation tool of different aspirin dosing regimens in the clinical setting. Blood Cancer J. 2018;8(8):49–57.
  • Wigton JC, Tersak JM. JAK2+ essential thrombocythemia in a young girl with Budd-Chiari syndrome: diagnostic and therapeutic considerations when adult disease strikes the young. J Pediatr Hematol Oncol. 2016;38:70–73.
  • De Stefano V, Vannucchi AM, Ruggeri M, et al. Splanchnic vein thrombosis in myeloproliferative neoplasms: risk factors for recurrences in a cohort of 181 patients. Blood Cancer J. 2016;6:e493–e499.
  • De Stefano V, Finazzi G, Barbui T. Antithrombotic therapy for venous thromboembolism in myeloproliferative neoplasms. Blood Cancer J. 2018;8:65–71.
  • Goldenberg NA, Takemoto CM, Yee DL, et al. Improving Evidence on Anticoagulant Therapies for Venous Thromboembolism in Children: key Challenges and Opportunities. Blood. 2015;126:2541–2547.
  • Radulescu. Anticoagulation Therapy in Children. Semin Thromb Hemost. 2017;43:877–885.
  • Antonioli E, Guglielmelli P, Pieri L, et al. Hydroxyurea-related toxicity in 3,411 patients with Ph'-negative MPN. Am J Hematol. 2012;87(5):552–554.
  • Sterkers Y, Preudhomme C, Laï JL, et al. Acute myeloid leukemia and myelodysplastic syndromes following essential thrombocythemia treated with hydroxyurea: high proportion of cases with 17p deletion. Blood. 1998;91:616–622.
  • Hansen IO, Sørensen AL, Hasselbalch HC. Second malignancies in hydroxyurea and interferon-treated Philadelphia-negative myeloproliferative neoplasms. Eur J Haematol. 2017;98:75–84.
  • Silver RT, Kiladjian -J-J, Hasselbalch HC. Interferon and the treatment of polycythemia vera, essential thrombocythemia and myelofibrosis. Expert Rev Hematol. 2013;6:49–58.
  • Kiladjian -J-J. Long-term treatment with interferon alfa for myeloproliferative neoplasms. Lancet Haematol. 2017;4:e150–1.
  • Quintas-Cardama A, Abdel-Wahab O, Manshouri T, et al. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon −2a. Blood. 2013;122:893–901.
  • Barbui T, Tefferi A, Vannucchi AM, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018 May;27(32):1057–1069.
  • Masarova L, Yin CC, Cortes JE, et al. Histomorphological responses after therapy with pegylated interferon α-2a in patients with essential thrombocythemia (ET) and polycythemia vera (PV). Exp Hematol Oncol. 2017;6:1–13.
  • Espasandin YR, Glembotsky AC, Grodzielski M, et al. Anagrelide platelet-lowering effect is due to inhibition of both megakaryocyte maturation and proplatelet formation: insight into potential mechanisms. J Thromb Haemost. 2015;13:631–642.
  • Birgegård G, Besses C, Griesshammer M, et al. Treatment of essential thrombocythemia in Europe: A prospective long-term observational study of 3649 high-risk patients in the evaluation of anagrelide efficacy and long-term safety study. Haematologica. 2018;103:51–60.
  • Harrison CN, Campbell PJ, Buck G, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005;353:33–45.
  • Kinney TR, Helms RW, O’Branski EE, et al. Safety of hydroxyurea in children with sickle cell anemia: results of the HUG-KIDS study, a phase I/II trial. Pediatric Hydroxyurea Group. Blood. 1999;94:1550–1554.
  • Finazzi G, Ruggeri M, Rodeghiero F, et al. Efficacy and safety of long-term use of hydroxyurea in young patients with essential thrombocythemia and a high risk of thrombosis. Blood. 2003;101:3749.
  • Vannucchi AM, Harrison CN. Emerging treatments for classical myeloproliferative neoplasms. Blood. 2017;129:693–703.
  • Vannucchi AM. Ruxolitinib versus standard therapy for the treatment of polycythemia vera. N Engl J Med. 2015;372(17):1670–1671.
  • Harrison CN, Mead AJ, Panchal A, et al. Ruxolitinib vs best available therapy for ET intolerant or resistant to hydroxycarbamide. Blood. 2017;130:1889–1897.
  • Bose P, Verstovsek S. Ruxolitinib for essential thrombocythemia? Oncoscience. 2017;4:148–149.
  • Loh ML, Tasian SK, Rabin KR, et al. A phase 1 dosing study of ruxolitinib in children with relapsed or refractory solid tumors, leukemias, or myeloproliferative neoplasms: A Children’s Oncology Group phase 1 consortium study (ADVL1011). Pediatr Blood Cancer. 2015;62:1717–1724.
  • Coskun ME, Height S, Dhawan A, et al. Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome. BMJ Case Rep. 2017;2017:bcr-2017–220377.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.