Top

Published in:

01-09-2015 | Review Article

Myeloproliferative neoplasms in children

Author: Inga Hofmann

Published in: Journal of Hematopathology | Issue 3/2015

Abstract

Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders characterized by aberrant proliferation of one or more myeloid lineages often with increased immature cells in the peripheral blood. The three classical BCR-ABL-negative MPNs are (1) polycythemia vera (PV), (2) essential thrombocythemia (ET), and (3) primary myelofibrosis (PMF), which are typically disorders of older adults and are exceedingly rare in children. The diagnostic criteria for MPNs remain largely defined by clinical, laboratory, and histopathology assessments in adults, but they have been applied to the pediatric population. The discovery of the JAK2 V617F mutation and, more recently, MPL and calreticulin (CALR) mutations are major landmarks in the understanding of MPNs. Nevertheless, they rarely occur in children, posing a significant diagnostic challenge given the lack of an objective clonal marker. Therefore, in pediatric patients, the diagnosis must rely heavily on clinical and laboratory factors and exclusion of secondary disorders to make an accurate diagnosis of MPN. This review focuses on the clinical presentation, diagnostic work up, differential diagnosis, treatment, and prognosis of the classical BCR-ABL-negative MPNs (PV, ET, and PMF) in children and highlights the key differences to the adult diseases. Particular attention will be given to pediatric PMF, as it is the only disorder of this group that is observed in infants and young children, and in many ways appears to be a unique entity compared to adult PMF.

Ahmed A, Chang CC (2006) Chronic idiopathic myelofibrosis: clinicopathologic features, pathogenesis, and prognosis. Arch Pathol Lab Med 130:1133–1143. doi:10.1043/1543-2165(2006)130[1133:CIM]2.0.CO;2 PubMed

Akyay A, Solmaz OA (2012) Myelofibrosis associated with vitamin D deficiency rickets in an older aged child. Pediatr Hematol Oncol 29:691–693. doi:10.3109/08880018.2012.727064 PubMed

Altura RA, Head DR, Wang WC (2000) Long-term survival of infants with idiopathic myelofibrosis. Br J Haematol 109:459–462PubMedCrossRef

An W, Wan Y, Guo Y, Chen X, Ren Y, Zhang J, Chang L, Wei W, Zhang P, Zhu X (2014) CALR mutation screening in pediatric primary myelofibrosis. Pediatr Blood Cancer 61:2256–2262. doi:10.1002/pbc.25211 PubMedCrossRef

Andreasson B, Swolin B, Kutti J (2002) Patients with idiopathic myelofibrosis show increased CD34+ cell concentrations in peripheral blood compared to patients with polycythaemia vera and essential thrombocythaemia. Eur J Haematol 68:189–193PubMedCrossRef

Barosi G (1999) Myelofibrosis with myeloid metaplasia: diagnostic definition and prognostic classification for clinical studies and treatment guidelines. J Clin Oncol 17:2954–2970PubMed

Barosi G, Viarengo G, Pecci A, Rosti V, Piaggio G, Marchetti M, Frassoni F (2001) Diagnostic and clinical relevance of the number of circulating CD34(+) cells in myelofibrosis with myeloid metaplasia. Blood 98:3249–3255PubMedCrossRef

Berlin NI (2002) Polycythemia vera: diagnosis and treatment 2002. Expert Rev Anticancer Ther 2:330–336. doi:10.1586/14737140.2.3.330 PubMedCrossRef

Boxer LA, Camitta BM, Berenberg W, Fanning JP (1975) Myelofibrosis-myeloid metaplasia in childhood. Pediatrics 55:861–865PubMed

10.

Cahn JY, Plouvier E, Flesch M, Carbillet JP, Herve P (1987) T cell-depleted allogeneic bone marrow transplantation in a case of childhood idiopathic myelofibrosis. Bone Marrow Transplant 2:209–211PubMed

11.

Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J, Vainchenker W, Bernard OA, Chaffanet M, Vey N et al (2009) Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 23:2183–2186. doi:10.1038/leu.2009.141 PubMedCrossRef

12.

Cario H (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. Ann Hematol 84:137–145. doi:10.1007/s00277-004-0985-1 PubMedCrossRef

13.

Cario H, Schwarz K, Herter JM, Komrska V, McMullin MF, Minkov M, Niemeyer C, Pospisilova D, Reinhard H, Debatin KM et al (2008) Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera. Br J Haematol 142:622–626. doi:10.1111/j.1365-2141.2008.07220.x PubMedCentralPubMedCrossRef

14.

Cervantes F (2011) Management of essential thrombocythemia. Hematology Am Soc Hematol Educ Program 2011:215–221. doi:10.1182/asheducation-2011.1.215 PubMedCrossRef

15.

Cetingul N, Yener E, Oztop S, Nisli G, Soydan S (1994) Agnogenic myeloid metaplasia in childhood: a report of two cases and efficiency of intravenous high dose methylprednisolone treatment. Acta Paediatr Jpn 36:697–700PubMedCrossRef

16.

Chim CS, Kwong YL, Lie AK, Ma SK, Chan CC, Wong LG, Kho BC, Lee HK, Sim JP, Chan CH et al (2005) Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. Arch Intern Med 165:2651–2658. doi:10.1001/archinte.165.22.2651 PubMedCrossRef

17.

DeLario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C 2nd, Webb CR, Lopez-Terrada D, Venkateswaran L (2012) Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis–an entity different from adults. Am J Hematol 87:461–464. doi:10.1002/ajh.23140 PubMedCrossRef

18.

Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A, Kosmider O, Le Couedic JP, Robert F, Alberdi A et al (2009) Mutation in TET2 in myeloid cancers. N Engl J Med 360:2289–2301. doi:10.1056/NEJMoa0810069 PubMedCrossRef

19.

Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, Tsuboi K, Nitta M, Miyazaki H, Iida S et al (2004) Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood 103:4198–4200. doi:10.1182/blood-2003-10-3471 PubMedCrossRef

20.

Dobo I, Boiret N, Lippert E, Girodon F, Mossuz P, Donnard M, Campos L, Pineau D, Bascans E, Praloran V et al (2004) A standardized endogenous megakaryocytic erythroid colony assay for the diagnosis of essential thrombocythemia. Haematologica 89:1207–1212PubMed

21.

Domm J, Calder C, Manes B, Crossno C, Correa H, Frangoul H (2009) Unrelated stem cell transplant for infantile idiopathic myelofibrosis. Pediatr Blood Cancer 52:893–895. doi:10.1002/pbc.21910 PubMedCrossRef

22.

Dror Y, Zipursky A, Blanchette VS (1999) Essential thrombocythemia in children. J Pediatr Hematol Oncol 21:356–363PubMedCrossRef

23.

Fu R, Zhang L, Yang R (2013) Paediatric essential thrombocythaemia: clinical and molecular features, diagnosis and treatment. Br J Haematol 163:295–302. doi:10.1111/bjh.12530 PubMedCrossRef

24.

Gangat N, Wolanskyj AP, McClure RF, Li CY, Schwager S, Wu W, Tefferi A (2007) Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients. Leukemia 21:270–276. doi:10.1038/sj.leu.2404500 PubMedCrossRef

25.

Giona F, Teofili L, Moleti ML, Martini M, Palumbo G, Amendola A, Mazzucconi MG, Testi AM, Pignoloni P, Orlando SM et al (2012) Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome. Blood 119:2219–2227. doi:10.1182/blood-2011-08-371328 PubMedCrossRef

26.

Harrison CN, Campbell PJ, Buck G, Wheatley K, East CL, Bareford D, Wilkins BS, van der Walt JD, Reilly JT, Grigg AP et al (2005) Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med 353:33–45. doi:10.1056/NEJMoa043800 PubMedCrossRef

27.

Hasle H (2000) Incidence of essential thrombocythaemia in children. Br J Haematol 110:751PubMedCrossRef

28.

Henry M, Chitlur M, Rajpurkar M, Mastropietro CW, Poulik J, Ravindranath Y (2014) Myelofibrosis, hepatic extramedullary hematopoiesis and ascites associated with vitamin D deficiency in early infancy. J Pediatr Hematol Oncol 36:319–321. doi:10.1097/MPH.0b013e31828e548a PubMedCrossRef

29.

Hoffman R, Xu M, Finazzi G, Barbui T (2008) Primary myelofibrosis. In: Hoffman R, Benz EJ, Shattil SJ (eds) Hematology: basic principles and practice, 5th edn. Churchill Livingstone, Philadelphia, Pa, pp 1125–1148

30.

Hussein AA, Hamadah T, Domm J, Al-Zaben A, Frangoul H (2013) Allogeneic hematopoietic stem cell transplantation for infants with idiopathic myelofibrosis. Pediatr Transplant 17:815–819. doi:10.1111/petr.12148 PubMedCrossRef

31.

Hussein K, Van Dyke DL, Tefferi A (2009) Conventional cytogenetics in myelofibrosis: literature review and discussion. Eur J Haematol 82:329–338. doi:10.1111/j.1600-0609.2009.01224.x PubMedCrossRef

32.

Ismael O, Shimada A, Hama A, Sakaguchi H, Doisaki S, Muramatsu H, Yoshida N, Ito M, Takahashi Y, Akita N et al (2012) Mutations profile of polycythemia vera and essential thrombocythemia among Japanese children. Pediatr Blood Cancer 59:530–535. doi:10.1002/pbc.23409 PubMedCrossRef

33.

Jacobson RJ, Salo A, Fialkow PJ (1978) Agnogenic myeloid metaplasia: a clonal proliferation of hematopoietic stem cells with secondary myelofibrosis. Blood 51:189–194PubMed

34.

Jensen MK, de Nully BP, Nielsen OJ, Hasselbalch HC (2000) Incidence, clinical features and outcome of essential thrombocythaemia in a well defined geographical area. Eur J Haematol 65:132–139PubMedCrossRef

35.

Kelly K, McMahon C, Langabeer S, Eliwan H, O’Marcaigh A, Smith OP (2008) Congenital JAK2V617F polycythemia vera: where does the genotype-phenotype diversity end? Blood 112:4356–4357. doi:10.1182/blood-2008-08-175620 PubMedCrossRef

36.

Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D et al (2013) Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 369:2379–2390. doi:10.1056/NEJMoa1311347 PubMedCrossRef

37.

Kucine N, Chastain KM, Mahler MB, Bussel JB (2014) Primary thrombocytosis in children. Haematologica 99:620–628. doi:10.3324/haematol.2013.092684 PubMedCentralPubMedCrossRef

38.

Lackner H, Urban C, Benesch M, Moser A, Sovinz P, Schwinger W, Dornbusch HJ (2006) Long-term use of anagrelide in the treatment of children with essential thrombocythemia. Eur J Haematol 77:358–359. doi:10.1111/j.1600-0609.2006.00719.x PubMedCrossRef

39.

Lau SO, Ramsay NK, Smith CM 2nd, McKenna R, Kersey JH (1981) Spontaneous resolution of severe childhood myelofibrosis. J Pediatr 98:585–588PubMedCrossRef

40.

Lundberg P, Karow A, Nienhold R, Looser R, Hao-Shen H, Nissen I, Girsberger S, Lehmann T, Passweg J, Stern M et al (2014) Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood 123:2220–2228. doi:10.1182/blood-2013-11-537167 PubMedCrossRef

41.

Macdougall LG, Pettifor JM, Patel JM (1987) Bone growth and haemopoiesis: steroid reversible anaemia, myelofibrosis and increased bone formation in a child. Br J Haematol 66:5–10PubMedCrossRef

42.

Mallouh AA, Sa’di AR (1992) Agnogenic myeloid metaplasia in children. Am J Dis Child 146:965–967PubMed

43.

Marchioli R, Finazzi G, Landolfi R, Kutti J, Gisslinger H, Patrono C, Marilus R, Villegas A, Tognoni G, Barbui T (2005) Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol 23:2224–2232. doi:10.1200/JCO.2005.07.062 PubMedCrossRef

44.

Mazzucconi MG, Redi R, Bernasconi S, Bizzoni L, Dragoni F, Latagliata R, Santoro C, Mandelli F (2004) A long-term study of young patients with essential thrombocythemia treated with anagrelide. Haematologica 89:1306–1313PubMed

45.

McNally RJ, Rowland D, Roman E, Cartwright RA (1997) Age and sex distributions of hematological malignancies in the U.K. Hematol Oncol 15:173–189PubMedCrossRef

46.

Mead AJ, Rugless MJ, Jacobsen SE, Schuh A (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med 366:967–969. doi:10.1056/NEJMc1200349 PubMedCrossRef

47.

Mesa RA, Silverstein MN, Jacobsen SJ, Wollan PC, Tefferi A (1999) Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted County Study, 1976–1995. Am J Hematol 61:10–15PubMedCrossRef

48.

Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, Levine R, Le Bousse-Kerdiles MC, Wadleigh M, Campbell PJ et al (2007) Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT). Leuk Res 31:737–740. doi:10.1016/j.leukres.2006.12.002 PubMedCrossRef

49.

Mi JQ, Blanc-Jouvan F, Wang J, Sotto MF, Cousin F, Castinel A, Chauvet M, Sotto JJ, Polack B, Mossuz P (2001) Endogenous megakaryocytic colony formation and thrombopoietin sensitivity of megakaryocytic progenitor cells are useful to distinguish between essential thrombocythemia and reactive thrombocytosis. J Hematother Stem Cell Res 10:405–409. doi:10.1089/152581601750289000 PubMedCrossRef

50.

Michiels JJ, Juvonen E (1997) Proposal for revised diagnostic criteria of essential thrombocythemia and polycythemia vera by the Thrombocythemia Vera Study Group. Semin Thromb Hemost 23:339–347. doi:10.1055/s-2007-996107 PubMedCrossRef

51.

Mitton B, de Oliveira S, Pullarkat ST, Moore TB (2013) Stem cell transplantation in primary myelofibrosis of childhood. J Pediatr Hematol Oncol 35:e120–e122. doi:10.1097/MPH.0b013e31828800cc PubMedCrossRef

52.

Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA (2014) Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union. Eur J Haematol 92:289–297. doi:10.1111/ejh.12256 PubMedCrossRef

53.

Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG et al (2013) Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 369:2391–2405. doi:10.1056/NEJMoa1312542 PubMedCentralPubMedCrossRef

54.

Ozsoylu S (1993) Megadose methylprednisolone for myelofibrosis. Acta Haematol 89:167PubMedCrossRef

55.

Passamonti F, Rumi E, Arcaini L, Boveri E, Elena C, Pietra D, Boggi S, Astori C, Bernasconi P, Varettoni M et al (2008) Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica 93:1645–1651. doi:10.3324/haematol.13346 PubMedCrossRef

56.

Passamonti F, Rumi E, Pungolino E, Malabarba L, Bertazzoni P, Valentini M, Orlandi E, Arcaini L, Brusamolino E, Pascutto C et al (2004) Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med 117:755–761. doi:10.1016/j.amjmed.2004.06.032 PubMedCrossRef

57.

Pearson TC, Messinezy M (2001) Idiopathic erythrocytosis, diagnosis and clinical management. Pathol Biol 49:170–177PubMedCrossRef

58.

Pilorget H, Bangui A, Adam M, Leverger G (1996) Myelofibrosis regressing under corticotherapy and intravenous immunoglobulins in an infant. Arch Pediatr 3:40–43PubMedCrossRef

59.

Randi ML, Putti MC, Scapin M, Pacquola E, Tucci F, Micalizzi C, Zanesco L, Fabris F (2006) Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative. Blood 108:3600–3602. doi:10.1182/blood-2006-04-014746 PubMedCrossRef

60.

Reinhard H, Klingebiel T, Lang P, Bader P, Niethammer D, Graf N (2008) Stem cell transplantation for polycythemia vera. Pediatr Blood Cancer 50:124–126. doi:10.1002/pbc.20906 PubMedCrossRef

61.

Rollison DE, Howlader N, Smith MT, Strom SS, Merritt WD, Ries LA, Edwards BK, List AF (2008) Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood 112:45–52. doi:10.1182/blood-2008-01-134858 PubMedCrossRef

62.

Rossbach HC, Grana NH, Chamizo W, Barrios NJ, Barbosa JL (1996) Successful allogeneic bone marrow transplantation for agnogenic myeloid metaplasia in a 3-year-old boy. J Pediatr Hematol Oncol 18:213–215PubMedCrossRef

63.

Sah A, Minford A, Parapia LA (2001) Spontaneous remission of juvenile idiopathic myelofibrosis. Br J Haematol 112:1083PubMedCrossRef

64.

Sekhar M, Prentice HG, Popat U, Anderson D, Janmohammed R, Roberts I, Britt RP (1996) Idiopathic myelofibrosis in children. Br J Haematol 93:394–397PubMedCrossRef

65.

Shaikh F, Naithani R, Kirby-Allen M, Doyle J (2012) Allogeneic cord hematopoietic stem cell transplantation in an infant with primary myelofibrosis. J Pediatr Hematol Oncol 34:e199–e201. doi:10.1097/MPH.0b013e3182346cc5 PubMedCrossRef

66.

Shankar S, Choi JK, Dermody TS, Head DR, Bunin N, Iannone R (2004) Pulmonary hypertension complicating bone marrow transplantation for idiopathic myelofibrosis. J Pediatr Hematol Oncol 26:393–397PubMedCrossRef

67.

Sheikha A (2004) Fatal familial infantile myelofibrosis. J Pediatr Hematol Oncol 26:164–168PubMedCrossRef

68.

Sieff CA, Malleson P (1980) Familial myelofibrosis. Arch Dis Child 55:888–893PubMedCentralPubMedCrossRef

69.

Slone JS, Smith MC, Seegmiller AC, Sidonio RF, Yang E (2013) Idiopathic myelofibrosis in children: primary myelofibrosis, essential thrombocythemia, or transient process? J Pediatr Hematol Oncol 35:559–565. doi:10.1097/MPH.0b013e31829cdea0 PubMedCrossRef

70.

Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M et al (2013) The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood 121:5078–5087. doi:10.1182/blood-2012-12-475566 PubMedCrossRef

71.

Stepensky P, Simanovsky N, Averbuch D, Gross M, Yanir A, Mevorach D, Elpeleg O, Weintraub M (2013) VPS 45-associated primary infantile myelofibrosis–successful treatment with hematopoietic stem cell transplantation. Pediatr Transplant 17:820–825. doi:10.1111/petr.12169 PubMedCrossRef

72.

Swerdlow SH, International Agency for Research on Cancer, World Health Organization (2008) WHO classification of tumours of haematopoietic and lymphoid tissues. International Agency for Research on Cancer, IARC, Lyon

73.

Tefferi A (2000) Myelofibrosis with myeloid metaplasia. N Engl J Med 342:1255–1265. doi:10.1056/NEJM200004273421706 PubMedCrossRef

74.

Tefferi A (2005) Pathogenesis of myelofibrosis with myeloid metaplasia. J Clin Oncol 23:8520–8530. doi:10.1200/JCO.2004.00.9316 PubMedCrossRef

75.

Tefferi A, Guglielmelli P, Lasho TL, Rotunno G, Finke C, Mannarelli C, Belachew AA, Pancrazzi A, Wassie EA, Ketterling RP et al (2014) CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: an international study of 570 patients. Leukemia 28:1494–1500. doi:10.1038/leu.2014.57 PubMedCrossRef

76.

Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R et al (2007) 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 110:1092–1097. doi:10.1182/blood-2007-04-083501 PubMedCrossRef

77.

Tefferi A, Vardiman JW (2008) Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 22:14–22. doi:10.1038/sj.leu.2404955 PubMedCrossRef

78.

Tenedini E, Bernardis I, Artusi V, Artuso L, Roncaglia E, Guglielmelli P, Pieri L, Bogani C, Biamonte F, Rotunno G et al (2014) Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms. Leukemia 28:1052–1059. doi:10.1038/leu.2013.302 PubMedCentralPubMedCrossRef

79.

Teofili L, Foa R, Giona F, Larocca LM (2008) Childhood polycythemia vera and essential thrombocythemia: does their pathogenesis overlap with that of adult patients? Haematologica 93:169–172. doi:10.3324/haematol.12002 PubMedCrossRef

80.

Teofili L, Giona F, Martini M, Cenci T, Guidi F, Torti L, Palumbo G, Amendola A, Foa R, Larocca LM (2007) Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol 25:1048–1053. doi:10.1200/JCO.2006.08.6884 PubMedCrossRef

81.

Teofili L, Giona F, Martini M, Cenci T, Guidi F, Torti L, Palumbo G, Amendola A, Leone G, Foa R et al (2007) 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 110:3384–3386. doi:10.1182/blood-2007-06-094276 PubMedCrossRef

82.

Teofili L, Giona F, Torti L, Cenci T, Ricerca BM, Rumi C, Nunes V, Foa R, Leone G, Martini M et al (2010) Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis. Haematologica 95:65–70. doi:10.3324/haematol.2009.007542 PubMedCentralPubMedCrossRef

83.

Thiele J, Kvasnicka HM, Facchetti F, Franco V, van der Walt J, Orazi A (2005) European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica 90:1128–1132PubMed

84.

Thiele J, Kvasnicka HM, Mullauer L, Buxhofer-Ausch V, Gisslinger B, Gisslinger H (2011) Essential thrombocythemia versus early primary myelofibrosis: a multicenter study to validate the WHO classification. Blood 117:5710–5718. doi:10.1182/blood-2010-07-293761 PubMedCrossRef

85.

Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, Finke C, Score J, Gangat N, Mannarelli C et al (2013) Mutations and prognosis in primary myelofibrosis. Leukemia 27:1861–1869. doi:10.1038/leu.2013.119 PubMedCrossRef

86.

Vardiman JW, Harris NL, Brunning RD (2002) The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 100:2292–2302. doi:10.1182/blood-2002-04-1199 PubMedCrossRef

87.

Vergara-Lluri ME, Piatek CI, Pullarkat V, Siddiqi IN, O’Connell C, Feinstein DI, Brynes RK (2014) Autoimmune myelofibrosis: an update on morphologic features in 29 cases and review of the literature. Hum Pathol 45:2183–2191. doi:10.1016/j.humpath.2014.07.017 PubMedCrossRef

88.

Vilboux T, Lev A, Malicdan MC, Simon AJ, Jarvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K et al (2013) A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med 369:54–65. doi:10.1056/NEJMoa1301296 PubMedCentralPubMedCrossRef

89.

Wilkins BS, Erber WN, Bareford D, Buck G, Wheatley K, East CL, Paul B, Harrison CN, Green AR, Campbell PJ (2008) Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood 111:60–70. doi:10.1182/blood-2007-05-091850 PubMedCrossRef

90.

Wolanskyj AP, Schwager SM, McClure RF, Larson DR, Tefferi A (2006) Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. Mayo Clin Proc 81:159–166. doi:10.4065/81.2.159 PubMedCrossRef

91.

Yetgin S, Ozsoylu S, Ruacan S, Tekinalp G, Sarialioglu F (1989) Vitamin D-deficiency rickets and myelofibrosis. J Pediatr 114:213–217PubMedCrossRef

Title: Myeloproliferative neoplasms in children
Author: Inga Hofmann
Publication date: 01-09-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Hematopathology / Issue 3/2015
Print ISSN: 1868-9256
Electronic ISSN: 1865-5785
DOI: https://doi.org/10.1007/s12308-015-0256-1

At a glance: The STEP trials

Springer Medicine

Myeloproliferative neoplasms in children

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2015

Myeloid proliferations associated with Down syndrome

Pediatric myelodysplastic/myeloproliferative neoplasms and related diseases

Molecular characterization and testing in acute myeloid leukemia

Deconstructing the diagnosis of hemophagocytic lymphohistiocytosis using illustrative cases

Paediatric hematopathology: something real special

Flow cytometry in the diagnosis and monitoring of acute leukemia in children