메뉴 건너뛰기




Volumn 28, Issue 7, 2014, Pages 1407-1413

An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms

Author keywords

CALR; CSF3R; myeloproliferative; neutrophilic; WHO

Indexed keywords

BIOLOGICAL MARKER; CALRETICULIN; COLONY STIMULATING FACTOR 3 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; JANUS KINASE 2; STEM CELL FACTOR RECEPTOR; UNCLASSIFIED DRUG;

EID: 84904067758     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2014.35     Document Type: Review
Times cited : (189)

References (39)
  • 2
    • 70349256226 scopus 로고    scopus 로고
    • The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia rationale and important changes
    • Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia rationale and important changes. Blood, 2009 114(5) 937-951.
    • (2009) Blood , vol.114 , Issue.5 , pp. 937-951
    • Vardiman, J.W.1    Thiele, J.2    Arber, D.A.3    Brunning, R.D.4    Borowitz, M.J.5    Porwit, A.6
  • 3
    • 0035885958 scopus 로고    scopus 로고
    • BCR-ABL transcripts may be detected in essential thrombocythemia but lack clinical significance
    • Heller P, Kornblihtt LI, Cuello MT, Larripa I, Najfeld V, Molinas FC. BCR-ABL transcripts may be detected in essential thrombocythemia but lack clinical significance. Blood 2001 98 1990.
    • (2001) Blood , vol.98 , pp. 1990
    • Heller, P.1    Kornblihtt, L.I.2    Cuello, M.T.3    Larripa, I.4    Najfeld, V.5    Molinas, F.C.6
  • 5
    • 0032834520 scopus 로고    scopus 로고
    • Bone marrow histopathology in chronic myelogenous leukemia (CML)-evaluation of distinctive features with clinical impact.
    • Thiele J, Kvasnicka HM, Fischer R. Bone marrow histopathology in chronic myelogenous leukemia (CML)-evaluation of distinctive features with clinical impact. Histol Histopathol 1999 14 1241-1256.
    • (1999) Histol Histopathol , vol.14 , pp. 1241-1256
    • Thiele, J.1    Kvasnicka, H.M.2    Fischer, R.3
  • 6
    • 69249153469 scopus 로고    scopus 로고
    • Etiology and outcome of extreme leukocytosis in 758 nonhematologic cancer patients a retrospective, single-institution study
    • Granger JM, Kontoyiannis DP. Etiology and outcome of extreme leukocytosis in 758 nonhematologic cancer patients a retrospective, single-institution study. Cancer 2009 115 3919-3923.
    • (2009) Cancer , vol.115 , pp. 3919-3923
    • Granger, J.M.1    Kontoyiannis, D.P.2
  • 8
    • 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, Guglielmelli P, Patel J, Caramazza D 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    Guglielmelli, P.4    Patel, J.5    Caramazza, D.6
  • 10
    • 84897568260 scopus 로고    scopus 로고
    • Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia.
    • e-pub ahead of print 26 December 2013 doi10.1182/blood-2013-11-538983
    • Rotunno G, Mannarelli C, Guglielmelli P, Pacilli A, Pancrazzi A, Pieri L et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood 2013 e-pub ahead of print 26 December 2013 doi10.1182/blood-2013-11-538983.
    • (2013) Blood
    • Rotunno, G.1    Mannarelli, C.2    Guglielmelli, P.3    Pacilli, A.4    Pancrazzi, A.5    Pieri, L.6
  • 11
    • 84904042955 scopus 로고    scopus 로고
    • CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis clinical, cytogenetic and molecular comparisons
    • Tefferi A, Lasho TL, Finke CM, Knudson RA, Ketterling R, Hanson CH et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis clinical, cytogenetic and molecular comparisons. Leukemia 2014 28 1472-1477.
    • (2014) Leukemia , vol.28 , pp. 1472-1477
    • Tefferi, A.1    Lasho, T.L.2    Finke, C.M.3    Knudson, R.A.4    Ketterling, R.5    Hanson, C.H.6
  • 12
    • 33746437130 scopus 로고    scopus 로고
    • MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia
    • Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006 3 e270.
    • (2006) PLoS Med , vol.3
    • Pikman, Y.1    Lee, B.H.2    Mercher, T.3    McDowell, E.4    Ebert, B.L.5    Gozo, M.6
  • 13
    • 33750534561 scopus 로고    scopus 로고
    • MPL515 mutations in myeloproliferative and other myeloid disorders a study of 1182 patients
    • Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M et al. MPL515 mutations in myeloproliferative and other myeloid disorders a study of 1182 patients. Blood 2006 108 3472-3476.
    • (2006) Blood , vol.108 , pp. 3472-3476
    • Pardanani, A.D.1    Levine, R.L.2    Lasho, T.3    Pikman, Y.4    Mesa, R.A.5    Wadleigh, M.6
  • 17
    • 84897517940 scopus 로고    scopus 로고
    • JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes.
    • e-pub ahead of print 23 December 2013 doi10.1182/blood-2013-11-539098
    • Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan AS, Milosevic JD et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood 2013 e-pub ahead of print 23 December 2013 doi10.1182/blood-2013-11-539098.
    • (2013) Blood
    • Rumi, E.1    Pietra, D.2    Ferretti, V.3    Klampfl, T.4    Harutyunyan, A.S.5    Milosevic, J.D.6
  • 19
    • 84892841427 scopus 로고    scopus 로고
    • Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
    • Vandenberghe P, Beel K. Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS. Pediatr Rep 2011 3(Suppl 2) e9.
    • (2011) Pediatr Rep , vol.3 , Issue.SUPPL. 2
    • Vandenberghe, P.1    Beel, K.2
  • 20
    • 33845972945 scopus 로고    scopus 로고
    • Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis Results of a long-term survey
    • Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis Results of a long-term survey. Blood 2007 109 93-99.
    • (2007) Blood , vol.109 , pp. 93-99
    • Germeshausen, M.1    Ballmaier, M.2    Welte, K.3
  • 21
    • 68149159772 scopus 로고    scopus 로고
    • An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia
    • Plo I, Zhang Y, Le Couedic JP, Nakatake M, Boulet JM, Itaya M et al. An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. J Exp Med 2009 206 1701-1707.
    • (2009) J Exp Med , vol.206 , pp. 1701-1707
    • Plo, I.1    Zhang, Y.2    Le Couedic, J.P.3    Nakatake, M.4    Boulet, J.M.5    Itaya, M.6
  • 22
    • 0037026594 scopus 로고    scopus 로고
    • An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia
    • Forbes LV, Gale RE, Pizzey A, Pouwels K, Nathwani A, Linch DC. An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia. Oncogene 2002 21 5981-5989.
    • (2002) Oncogene , vol.21 , pp. 5981-5989
    • Forbes, L.V.1    Gale, R.E.2    Pizzey, A.3    Pouwels, K.4    Nathwani, A.5    Linch, D.C.6
  • 23
    • 84861813715 scopus 로고    scopus 로고
    • Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia
    • Beekman R, Valkhof MG, Sanders MA, van Strien PM, Haanstra JR, Broeders L et al. Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. Blood 2012 119 5071-5077.
    • (2012) Blood , vol.119 , pp. 5071-5077
    • Beekman, R.1    Valkhof, M.G.2    Sanders, M.A.3    Van Strien, P.M.4    Haanstra, J.R.5    Broeders, L.6
  • 25
    • 84888252332 scopus 로고    scopus 로고
    • The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition
    • Fleischman AG, Maxson JE, Luty SB, Agarwal A, Royer LR, Abel ML et al. The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. Blood 2013 122 3628-3631.
    • (2013) Blood , vol.122 , pp. 3628-3631
    • Fleischman, A.G.1    Maxson, J.E.2    Luty, S.B.3    Agarwal, A.4    Royer, L.R.5    Abel, M.L.6
  • 26
    • 84883743018 scopus 로고    scopus 로고
    • CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia
    • Pardanani A, Lasho TL, Laborde RR, Elliott M, Hanson CA, Knudson RA et al. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia 2013 27 1870-1873.
    • (2013) Leukemia , vol.27 , pp. 1870-1873
    • Pardanani, A.1    Lasho, T.L.2    Laborde, R.R.3    Elliott, M.4    Hanson, C.A.5    Knudson, R.A.6
  • 27
    • 84877018599 scopus 로고    scopus 로고
    • Prevalence of a new auto-activating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia
    • Beekman R, Valkhof M, van Strien P, Valk PJ, Touw IP. Prevalence of a new auto-activating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia. Haematologica 2013 98 e62-e63.
    • (2013) Haematologica , vol.98
    • Beekman, R.1    Valkhof, M.2    Van Strien, P.3    Valk, P.J.4    Touw, I.P.5
  • 28
    • 84883741186 scopus 로고    scopus 로고
    • Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia
    • Kosmider O, Itzykson R, Chesnais V, Lasho T, Laborde R, Knudson R et al. Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia. Leukemia 2013 27 1946-1949.
    • (2013) Leukemia , vol.27 , pp. 1946-1949
    • Kosmider, O.1    Itzykson, R.2    Chesnais, V.3    Lasho, T.4    Laborde, R.5    Knudson, R.6
  • 29
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    • James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C 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    Staerk, J.4    Delhommeau, F.5    Lacout, C.6
  • 30
    • 34548128326 scopus 로고    scopus 로고
    • Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera
    • Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007 21 1960-1963.
    • (2007) Leukemia , vol.21 , pp. 1960-1963
    • Pardanani, A.1    Lasho, T.L.2    Finke, C.3    Hanson, C.A.4    Tefferi, A.5
  • 31
    • 84883742082 scopus 로고    scopus 로고
    • Survival and prognosis among 1545 patients with contemporary polycythemia vera an international study
    • Tefferi A, Rumi E, Finazzi G, Gisslinger H, Vannucchi AM, Rodeghiero F et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera an international study. Leukemia 2013 27 1874-1881.
    • (2013) Leukemia , vol.27 , pp. 1874-1881
    • Tefferi, A.1    Rumi, E.2    Finazzi, G.3    Gisslinger, H.4    Vannucchi, A.M.5    Rodeghiero, F.6
  • 32
    • 0028055045 scopus 로고
    • Identification of masked polycythemia vera from patients with idiopathic marked thrombocytosis by endogenous erythroid colony assay
    • Shih LY, Lee CT. Identification of masked polycythemia vera from patients with idiopathic marked thrombocytosis by endogenous erythroid colony assay. Blood 1994 83 744-748.
    • (1994) Blood , vol.83 , pp. 744-748
    • Shih, L.Y.1    Lee, C.T.2
  • 34
    • 84902077783 scopus 로고    scopus 로고
    • Rethinking the diagnostic criteria of polycythemia vera
    • Barbui T, Thiele J, Vannucchi AM, Tefferi A. Rethinking the diagnostic criteria of polycythemia vera. Leukemia 2014 28 1191-1195.
    • (2014) Leukemia , vol.28 , pp. 1191-1195
    • Barbui, T.1    Thiele, J.2    Vannucchi, A.M.3    Tefferi, A.4
  • 36
    • 84881477148 scopus 로고    scopus 로고
    • Personalized management of essential thrombocythemiaapplication of recent evidence to clinical practice
    • Tefferi A, Barbui T. Personalized management of essential thrombocythemiaapplication of recent evidence to clinical practice. Leukemia 2013 27 1617-1620.
    • (2013) Leukemia , vol.27 , pp. 1617-1620
    • Tefferi, A.1    Barbui, T.2
  • 37
    • 84894042757 scopus 로고    scopus 로고
    • The molecular genetics of chronic neutrophilic leukaemia defining a new era in diagnosis and therapy.
    • e-pub ahead of print 11 December 2013 doi10.1097/MOH.0000000000000014
    • Elliott MA, Tefferi A. The molecular genetics of chronic neutrophilic leukaemia defining a new era in diagnosis and therapy. Curr Opin Hematol 2013 e-pub ahead of print 11 December 2013 doi10.1097/MOH.0000000000000014.
    • (2013) Curr Opin Hematol
    • Elliott, M.A.1    Tefferi, A.2
  • 38
    • 0036847284 scopus 로고    scopus 로고
    • Chronic neutrophilic leukaemia 14 new cases of an uncommon myeloproliferative disease
    • Bohm J, Schaefer HE. Chronic neutrophilic leukaemia 14 new cases of an uncommon myeloproliferative disease. J Clin Pathol 2002 55 862-864.
    • (2002) J Clin Pathol , vol.55 , pp. 862-864
    • Bohm, J.1    Schaefer, H.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.