199
Views
6
CrossRef citations to date
0
Altmetric
Case Report

Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd–Chiari syndrome

, , &
Pages 805-808 | Received 25 Dec 2014, Accepted 23 Mar 2015, Published online: 13 May 2015

References

  • Jensen MK, de Nully Brown P, Nielsen OJ, Hasselbalch HC. Incidence, clinical features and outcome of essential thrombocythaemia in a well defined geographical area. Eur J Haematol 2000;65(2):132–139
  • Hasle H. Incidence of essential thrombocythaemia in children. Br J Haematol 2000;110(3):751
  • Giona F, Teofili L, Moleti ML, Martini M, Palumbo G, Amendola A, Manzucconi MG, Testi AM, Pignoloni P, Orlando SM, Capodimonti S, Nanni M, Leone G, Larocca LM, Foa R. Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: Clinical and biologic features, treatment, and long-term outcome. Blood 2012;119(10):2219–2227
  • Dror Y, Blanchette VS. Essential thrombocythaemia in children. Br J Haematol 1999;107(4):691–698
  • Fu R, Zhang L, Yang R. Paediatric essential thrombocythaemia: Clinical and molecular features, diagnosis and treatment. Br J Haematol 2013;163(3):295–302
  • Tarella C, Passera R, Magni M, Benedetti F, Rossi A, Gueli A, Patti C, Parvis G, Ciceri F, Gallamini A, Cortelazzo S, Zoli V, Corradini P, Carobbio A, Mulé A, Bosa M, Barbui A, Di Nicola M, Sorio M, Caracciolo D, Gianni AM, Rambaldi A. Risk factors for the development of secondary malignancy after high-dose chemotherapy and autograft, with or without rituximab: A 20-year retrospective follow-up study in patients with lymphoma. J Clin Oncol 2011;29(7):814–824
  • Teofili L, Giona F, Martini M, Cenci T, Guidi F, Torti L, Palumbo G, Amendola A, Foà R, Larocca LM. Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol 2007;25(9):1048–1053
  • Randi ML, Putti MC, Scapin M, Pacquola E, Tucci F, Micalizzi C, Zanesco L, Fabris F. Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative. Blood 2006;108(10):3600–3602
  • Beer PA. The pathogenesis of essential thrombocythemia. Curr Opin Hematol 2011;18(5):323–329
  • Farruggia P, D'Angelo P, La Rosa M, Scibetta N, Santangelo G, Lo Bello A, Duner E, Randi ML, Putti MC, Santoro A. MPL W515L mutation in pediatric essential thrombocythemia. Pediatr Blood Cancer 2013;60(8):E52–E54
  • Akpinar TS, Hancer VS, Nalcaci M, Diz-Kucukkaya R. MPL W515L/K mutations in chronic myeloproliferative neoplasms. Turk J Haematol 2013;30(1):8–12
  • Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M, Gilliland DG, Levine RL. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006;3(7):e270
  • Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A. MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients. Blood 2006;108(10):3472–3476
  • Solari J, Bandi JC, Galdame O, Marciano S, Mullen E, Garcia MR, Nucifora E, de Santibañes E, Gadano A. Diagnosis, treatment and evolution of the Budd–Chiari syndrome: A single center experience. Acta Gastroenterol Latinoam 2010;40(3):225–235
  • Matsubara K, Fukaya T, Nigami H, Harigaya H, Hirata T, Nozaki H, Baba K. Age-dependent changes in the incidence and etiology of childhood thrombocytosis. Acta Haematol 2004;111(3):132–137
  • Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R. Thrombocytosis in children. Minerva Pediatr 2011;63(6):507–513
  • 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; quiz 252
  • Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008;22(1):14–22
  • Teofili L, Giona F, Martini M, Cenci T, Guidi F, Torti L, Palumbo G, Amendola A, Leone G, Foà R, Larocca LM. The revised WHO diagnostic criteria for Ph-negative myeloproliferative diseases are not appropriate for the diagnostic screening of childhood polycythemia vera and essential thrombocythemia. Blood 2007;110(9):3384–3386
  • Beer PA, Campbell PJ, Scott LM, 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
  • Ding J, Komatsu H, Iida S, Yano H, Kusumoto S, Inagaki A, Mori F, Ri M, Ito A, Wakita A, Ishida T, Nitta M, Ueda R. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. Blood 2009;114(15):3325–3328
  • Bojko P, Abenhardt W, Schnittger S, Haferlach T. Mutations in the JAK2 and MPL genes and their correlation to clinical parameters in patients with chronic myeloproliferative disease. Onkologie 2009;32(4):191–195
  • Barbui T, Barosi G, Birgegard G, Cervantes F, Finazzi G, Griesshammer M, Harrison C, Hasselbalch HC, Hehlmann R, Hoffman R, Kiladjian JJ, Kröger N, Mesa R, McMullin MF, Pardanani A, Passamonti F, Vannucchi AM, Reiter A, Silver RT, Verstovsek S, Tefferi A; European LeukemiaNet. Philadelphia-negative classical myeloproliferative neoplasms: Critical concepts and management recommendations from European LeukemiaNet. J Clin Oncol 2011;29(6):761–770
  • Harrison CN, Bareford D, Butt N, Campbell P, Conneally E, Drummond M, Erber W, Everington T, Green AR, Hall GW, Hunt BJ, Ludlam CA, Murrin R, Nelson-Piercy C, Radia DH, Reilly JT, Van der Walt J, Wilkins B, McMullin MF; British Committee for Standards in Haematology. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol 2010;149(3):352–375
  • Horton JD, San Miguel FL, Membreno F, Wright F, Paima J, Foster P, Ortiz JA. Budd–Chiari syndrome: Illustrated review of current management. Liver Int 2008;28(4):455–466
  • Jantunen R, Juvonen E, Ikkala E, Oksanen K, Anttila P, Hormila P, Jansson SE, Kekomäki R, Ruutu T. Essential thrombocythemia at diagnosis: Causes of diagnostic evaluation and presence of positive diagnostic findings. Ann Hematol 1998;77(3):101–106
  • Yadav D, Chandra J, Sharma S, Singh V. Essential thrombocytosis and antiphospholipid antibody syndrome causing chronic Budd–Chiari syndrome. Indian J Pediatr 2012;79(4):538–540
  • Oo TH. Comments on “essential thrombocytosis and antiphospholipid antibody syndrome causing chronic Budd–Chiari syndrome”. Indian J Pediatr 2012;79(11):1533; author reply 4
  • Coban S, Ertugrul I, Ekiz F, Akif Teber M, Yuksel O. Budd–Chiari syndrome and portal vein thrombosis due to essential thrombocytosis. Platelets 2010;21(2):144–146

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.