JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis

Journal of Pediatric Hematology/Oncology

Volumn 31, Issue 9, 2009, Pages 678-680

  Kurosawa, Hidemitsu ^a   Okuya, Mayuko ^a   Matsushita, Takashi ^a   Kubota, Takeo ^b   Endoh, Kazushi ^b   Kuwashima, Shigeko ^a   Hagisawa, Susumu ^a   Sato, Yuya ^a   Fukushima, Keitaro ^a   Sugita, Kenichi ^a   Okada, Yoshuifumi ^a   Park, Myoung Ja ^c   Hayashi, Yasuhide ^c   Arisaka, Osamu ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF YAMANASHI   (Japan)

^c Gumna Children S Medical Center   (Japan)

Author keywords

Cerebral venous thrombosis; Essential thrombocythemia; JAK2V617F; X chromosome inactivation

Indexed keywords

ARTICLE; BLOOD CLOTTING DISORDER; BONE MARROW BIOPSY; BRAIN TUMOR; BRONCHITIS; CASE REPORT; CEREBRAL SINUS THROMBOSIS; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CYTOREDUCTIVE SURGERY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; LEUKOCYTE COUNT; MYELOPOIESIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHLEBOGRAPHY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLENOMEGALY; THROMBOCYTE COUNT; THROMBOCYTHEMIA;

ASPIRIN; CHILD; CLONE CELLS; CYTOTOXINS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HEADACHE; HUMANS; HYDROXYUREA; JANUS KINASE 2; NAUSEA; PLATELET AGGREGATION INHIBITORS; RECURRENCE; SINUS THROMBOSIS, INTRACRANIAL; SUPRATENTORIAL NEOPLASMS; THROMBOCYTHEMIA, ESSENTIAL; THROMBOPHILIA;

EID: 70349083780     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181b1ec9e     Document Type: Article

References (19)

1. Tefferi A, Thiele J, Orazi A, et al. 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. 2007;110:1092-1097.
2. Hasle H. Incidence of essential thrombocythaemia in children. Br J Haematol. 2000;110:751.
3. Teofili L, Giona F, Martini M, et al. Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol. 2007;25:1048-1053.
4. Randi ML, Putti MC, Scapin M, et al. Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative. Blood. 2006;108:3600-3602.
5. El-Moneim AA, Kratz CP, Boll S, et al. Essential versus reactive thrombocythemia in children: retrospective analyses of 12 cases. Pediatr Blood Cancer. 2007;49:52-55.
6. Teofili L, Giona F, Martini M, et al. The revised WHO diagnostic criteria for PhBnegative myeloproliferative diseases are not appropriate for the diagnostic screening of childhood polycythemia vera and essential thrombocythemia. Blood. 2007;110:3384-3386.
7. Harrison CN, Gale RE, Machin SJ, et al. A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. Blood. 1999;93:417-424.
8. Gale RE, Allen AJ, Nash MJ, et al. Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years. Blood. 2007;109:1241-1243.
9. Miyata T, Kimura R, Kokubo Y, et al. Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E mutation. Int J Hematol. 2006;83:217-223. (Pubitemid 44227995)
10. Kubota T, Nonoyama S, Tonoki H, et al. A new assay for the analysis of X-chromosome inactivation based on methylationspecific PCR. Hum Genet. 1999;104:49-55.
11. Landolfi R, Di Gennaro L, Falanga A. Thrombosis in myeloproliferative disorders: pathogenetic facts and speculation. Leukemia. 2008;22:2020-2028.
12. Levine RL, Heaney M. New advances in the pathogenesis and therapy of essential thrombocythemia. Hematology Am Soc Hematol Educ Program. 2008;2008:76-82.
13. Finazzi G, Barbui T. Evidence and expertize in the management of polycythemia vera and essential thrombocythemia. Leukemia. 2008;22:1494-1502.
14. Carobbio A, Antonioli E, Guglielmelli P, et al. Leukocytosis and risk stratification assessment in essential thrombocythemia. J Clin Oncol. 2008;26:2732-2736.
15. Kiladjian JJ, Chomienne C, Fenaux P. Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. Leukemia. 2008;22:1990-1998.
16. Dame C, Sutor AH. Primary and secondary thrombocytosis in childhood. Br J Haematol. 2005;129:165-177.
17. 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.
18. Falanga A, Marchetti M, Evangelista V, et al. Polymorphonuclear leukocyte activation and hemostasis in patients with essential thrombocythemia and polycythemia vera. Blood. 2000;96:4261-4266.
19. Kiladjian JJ, Rain JD, Bernard JF, et al. Long-term incidence of hematological evolution in three French prospective studies of hydroxyurea and pipobroman in polycythemia vera and essential thrombocythemia. Semin Thromb Hemost. 2006;32: 417-421.