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Volumn 59, Issue 3, 2012, Pages 530-535

Mutations profile of polycythemia vera and essential thrombocythemia among Japanese children

Author keywords

ASXL1; Essential thrombocythemia; JAK2; Mutation; Polycythemia vera

Indexed keywords

ADDITIONAL SEX COMB LIKE 1 PROTEIN; CASITAS B LINEAGE LYMPHOMA PROTEIN; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; JANUS KINASE 2; TEN ELEVEN TRANSLOCATION 2 PROTEIN; THROMBOPOIETIN RECEPTOR; TRANSCRIPTION FACTOR; TUMOR PROTEIN; UNCLASSIFIED DRUG;

EID: 84863880827     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.23409     Document Type: Article
Times cited : (17)

References (33)
  • 1
    • 0001639195 scopus 로고
    • Some speculations on the myeloproliferative syndromes
    • Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951; 6: 372-375.
    • (1951) Blood , vol.6 , pp. 372-375
    • Dameshek, W.1
  • 2
    • 67349109841 scopus 로고    scopus 로고
    • The complete evaluation of erythrocytosis: Congenital and acquired
    • Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: Congenital and acquired. Leukemia 2009; 23: 834-844.
    • (2009) Leukemia , vol.23 , pp. 834-844
    • Patnaik, M.M.1    Tefferi, A.2
  • 3
    • 20144363192 scopus 로고    scopus 로고
    • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    • Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-1061.
    • (2005) Lancet , vol.365 , pp. 1054-1061
    • Baxter, E.J.1    Scott, L.M.2    Campbell, P.J.3
  • 4
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    • James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-1148.
    • (2005) Nature , vol.434 , pp. 1144-1148
    • James, C.1    Ugo, V.2    Le Couedic, J.P.3
  • 5
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790.
    • (2005) N Engl J Med , vol.352 , pp. 1779-1790
    • Kralovics, R.1    Passamonti, F.2    Buser, A.S.3
  • 6
    • 20244369569 scopus 로고    scopus 로고
    • Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
    • Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387-397.
    • (2005) Cancer Cell , vol.7 , pp. 387-397
    • Levine, R.L.1    Wadleigh, M.2    Cools, J.3
  • 7
    • 33846660947 scopus 로고    scopus 로고
    • JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis
    • Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007; 356: 459-468.
    • (2007) N Engl J Med , vol.356 , pp. 459-468
    • Scott, L.M.1    Tong, W.2    Levine, R.L.3
  • 8
    • 38949160429 scopus 로고    scopus 로고
    • Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders
    • Pietra D, Li S, Brisci A, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 2008; 111: 1686-1689.
    • (2008) Blood , vol.111 , pp. 1686-1689
    • Pietra, D.1    Li, S.2    Brisci, A.3
  • 9
    • 79952075257 scopus 로고    scopus 로고
    • Myeloproliferative neoplasms: Molecular pathophysiology, essential clinical understanding, and treatment strategies
    • Tefferi A, Vainchenker W. Myeloproliferative neoplasms: Molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol 2011; 29: 573-582.
    • (2011) J Clin Oncol , vol.29 , pp. 573-582
    • Tefferi, A.1    Vainchenker, W.2
  • 10
    • 34548240698 scopus 로고    scopus 로고
    • Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders
    • Levine RL, Pardanani A, Tefferi A, et al. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer 2007; 7: 673-683.
    • (2007) Nat Rev Cancer , vol.7 , pp. 673-683
    • Levine, R.L.1    Pardanani, A.2    Tefferi, A.3
  • 11
    • 70149103800 scopus 로고    scopus 로고
    • Mutation in TET2 in myeloid cancers
    • author reply 1117-1118
    • Tefferi A, Lim KH, Levine R. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 361: 1117; author reply 1117-1118.
    • (2009) N Engl J Med , vol.361 , pp. 1117
    • Tefferi, A.1    Lim, K.H.2    Levine, R.3
  • 12
    • 77950388949 scopus 로고    scopus 로고
    • Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms
    • Schaub FX, Looser R. Li S, et al. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood 2010; 115: 2003-2007.
    • (2010) Blood , vol.115 , pp. 2003-2007
    • Schaub, F.X.1    Looser, R.2    Li, S.3
  • 13
    • 70450239681 scopus 로고    scopus 로고
    • Mutations of ASXL1 gene in myeloproliferative neoplasms
    • Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 2009; 23: 2183-2186.
    • (2009) Leukemia , vol.23 , pp. 2183-2186
    • Carbuccia, N.1    Murati, A.2    Trouplin, V.3
  • 14
    • 67650401377 scopus 로고    scopus 로고
    • Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms
    • Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009; 113: 6182-6192.
    • (2009) Blood , vol.113 , pp. 6182-6192
    • Grand, F.H.1    Hidalgo-Curtis, C.E.2    Ernst, T.3
  • 15
    • 77954658823 scopus 로고    scopus 로고
    • IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis
    • Tefferi A, Lasho TL, Abdel-Wahab O, et al. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 2010; 24: 1302-1309.
    • (2010) Leukemia , vol.24 , pp. 1302-1309
    • Tefferi, A.1    Lasho, T.L.2    Abdel-Wahab, O.3
  • 16
    • 34047236618 scopus 로고    scopus 로고
    • Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia
    • 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.
    • (2007) J Clin Oncol , vol.25 , pp. 1048-1053
    • Teofili, L.1    Giona, F.2    Martini, M.3
  • 17
    • 40849147397 scopus 로고    scopus 로고
    • Childhood polycythemia vera and essential thrombocythemia: Does their pathogenesis overlap with that of adult patients?
    • Teofili L, Foa R, Giona F, et al. Childhood polycythemia vera and essential thrombocythemia: Does their pathogenesis overlap with that of adult patients? Haematologica 2008; 93: 169-172.
    • (2008) Haematologica , vol.93 , pp. 169-172
    • Teofili, L.1    Foa, R.2    Giona, F.3
  • 18
    • 69249104612 scopus 로고    scopus 로고
    • The 2008 World Health Organization classification system for myeloproliferative neoplasms: Order out of chaos
    • Tefferi A, Thiele J, Vardiman JW. The 2008 World Health Organization classification system for myeloproliferative neoplasms: Order out of chaos. Cancer 2009; 115: 3842-3847.
    • (2009) Cancer , vol.115 , pp. 3842-3847
    • Tefferi, A.1    Thiele, J.2    Vardiman, J.W.3
  • 19
    • 78049253106 scopus 로고    scopus 로고
    • JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia
    • Kim HJ, Jang JH, Yoo EH, et al. JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. Korean J Lab Med 2010; 30: 474-476.
    • (2010) Korean J Lab Med , vol.30 , pp. 474-476
    • Kim, H.J.1    Jang, J.H.2    Yoo, E.H.3
  • 20
    • 66849124925 scopus 로고    scopus 로고
    • Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia
    • Gelsi-Boyer V, Trouplin V, Adelaide J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009; 145: 788-800.
    • (2009) Br J Haematol , vol.145 , pp. 788-800
    • Gelsi-Boyer, V.1    Trouplin, V.2    Adelaide, J.3
  • 21
    • 34249782018 scopus 로고    scopus 로고
    • Essential versus reactive thrombocythemia in children: Retrospective analyses of 12 cases
    • 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.
    • (2007) Pediatr Blood Cancer , vol.49 , pp. 52-55
    • El-Moneim, A.A.1    Kratz, C.P.2    Boll, S.3
  • 22
    • 68549087247 scopus 로고    scopus 로고
    • Philadelphia chromosome-negative chronic myeloproliferative disease
    • Thiele J. Philadelphia chromosome-negative chronic myeloproliferative disease. Am J Clin Pathol 2009; 132: 261-280.
    • (2009) Am J Clin Pathol , vol.132 , pp. 261-280
    • Thiele, J.1
  • 23
    • 33751161677 scopus 로고    scopus 로고
    • Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative
    • Randi ML, Putti MC, Scapin M, et al. Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative. Blood 2006; 108: 3600-3602.
    • (2006) Blood , vol.108 , pp. 3600-3602
    • Randi, M.L.1    Putti, M.C.2    Scapin, M.3
  • 24
    • 28244442441 scopus 로고    scopus 로고
    • Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: A prospective study
    • Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: A prospective study. Lancet 2005; 366: 1945-1953.
    • (2005) Lancet , vol.366 , pp. 1945-1953
    • Campbell, P.J.1    Scott, L.M.2    Buck, G.3
  • 25
    • 47649096376 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera
    • Cario H, Schwarz K, Herter JM, et al. Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera. Br J Haematol 2008; 142: 622-626.
    • (2008) Br J Haematol , vol.142 , pp. 622-626
    • Cario, H.1    Schwarz, K.2    Herter, J.M.3
  • 26
    • 77954581139 scopus 로고    scopus 로고
    • Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1
    • Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010; 24: 1128-1138.
    • (2010) Leukemia , vol.24 , pp. 1128-1138
    • Tefferi, A.1
  • 27
    • 79951971466 scopus 로고    scopus 로고
    • Advances in understanding the pathogenesis of familial thrombocythaemia
    • Teofili L, Larocca LM. Advances in understanding the pathogenesis of familial thrombocythaemia. Br J Haematol 2011; 152: 701-712.
    • (2011) Br J Haematol , vol.152 , pp. 701-712
    • Teofili, L.1    Larocca, L.M.2
  • 28
    • 34447332571 scopus 로고    scopus 로고
    • Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis
    • Rives S, Pahl HL, Florensa L, et al. Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. Haematologica 2007; 92: 674-677.
    • (2007) Haematologica , vol.92 , pp. 674-677
    • Rives, S.1    Pahl, H.L.2    Florensa, L.3
  • 29
    • 70349237414 scopus 로고    scopus 로고
    • Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis
    • Semenza GL. Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. Blood 2009; 114: 2015-2019.
    • (2009) Blood , vol.114 , pp. 2015-2019
    • Semenza, G.L.1
  • 30
    • 20344370255 scopus 로고    scopus 로고
    • Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin
    • Randi ML, Murgia A, Putti MC, et al. Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. Haematologica 2005; 90: 689-691.
    • (2005) Haematologica , vol.90 , pp. 689-691
    • Randi, M.L.1    Murgia, A.2    Putti, M.C.3
  • 31
    • 34548848799 scopus 로고    scopus 로고
    • A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove
    • Percy MJ, Furlow PW, Beer PA, et al. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. Blood 2007; 110: 2193-2196.
    • (2007) Blood , vol.110 , pp. 2193-2196
    • Percy, M.J.1    Furlow, P.W.2    Beer, P.A.3
  • 32
    • 38049173572 scopus 로고    scopus 로고
    • A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
    • Percy MJ, Furlow PW, Lucas GS, et al. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 2008; 358: 162-168.
    • (2008) N Engl J Med , vol.358 , pp. 162-168
    • Percy, M.J.1    Furlow, P.W.2    Lucas, G.S.3
  • 33
    • 76549109434 scopus 로고    scopus 로고
    • Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias
    • Abdel-Wahab O, Manshouri T, Patel J, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res 2010; 70: 447-452.
    • (2010) Cancer Res , vol.70 , pp. 447-452
    • Abdel-Wahab, O.1    Manshouri, T.2    Patel, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.