CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia

Leukemia

Volumn 27, Issue 9, 2013, Pages 1870-1873

  Pardanani, A ^a   Lasho, T L ^a   Laborde, R R ^a   Elliott, M ^a   Hanson, C A ^a   Knudson, R A ^a   Ketterling, R P ^a   Maxson, J E ^b,c   Tyner, J W ^c   Tefferi, A ^a  

^a MAYO CLINIC   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

G CSF; hereditary neutrophilia; myeloproliferative; severe congenital neutropenia

Indexed keywords

COLONY STIMULATING FACTOR; COLONY STIMULATING FACTOR 3; JANUS KINASE 2; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATYPICAL CHRONIC MYELOID LEUKEMIA; BONE MARROW BIOPSY; CHRONIC MYELOMONOCYTIC LEUKEMIA; CHRONIC NEUTROPHILIC LEUKEMIA; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MONOCLONAL IMMUNOGLOBULINEMIA; MULTIPLE MYELOMA; MYELOID METAPLASIA; POLYCYTHEMIA VERA; PRIORITY JOURNAL; WORLD HEALTH ORGANIZATION;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; BONE MARROW; CARRIER PROTEINS; EXONS; FEMALE; HUMANS; LEUKEMIA, NEUTROPHILIC, CHRONIC; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; NUCLEAR PROTEINS; RECEPTORS, COLONY-STIMULATING FACTOR; YOUNG ADULT;

EID: 84883743018     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.122     Document Type: Article

References (18)

1. Metcalf D. The granulocyte-macrophage colony-stimulating factors. Science 1985; 229: 16-22.
2. Dong F, van Buitenen C, Pouwels K, Hoefsloot LH, Lowenberg B, Touw IP. Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation. Mol Cell Biol 1993; 13: 7774-7781. (Pubitemid 23354302)
3. Germeshausen M, Welte K, Ballmaier M. In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia. Blood 2009; 113: 668-670.
4. 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. (Pubitemid 46053048)
5. 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.
6. Liu F, Kunter G, Krem MM, Eades WC, Cain JA, Tomasson MH et al. Csf3r mutations in mice confer a strong clonal HSC advantage via activation of Stat5. J Clin Invest 2008; 118: 946-955. (Pubitemid 351364602)
7. Kunter G, Woloszynek JR, Link DC. A truncation mutant of Csf3r cooperates with PML-RARalpha to induce acute myeloid leukemia in mice. Exp Hematol 2011; 39: 1136-1143.
8. Beekman R, Valkhof M, van Strien P, Valk P, Touw IP. Prevalence of a new autoactivating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia. Haematologica 2013; 98: e62-e63.
9. 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.
10. 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.
11. Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agareval A, Eide CA et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 2013; 368: 1781-1790.
12. Vardiman J, Hyjek E. World Health Organization classification, evaluation, and genetics of the myeloproliferative neoplasm variants. Hematology Am Soc Hematol Educ Program 2011; 2011: 250-256.
13. Patnaik MM, Padron E, Laborde RR, Lasho TL, Finke CM, Hanson CA et al. Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes. Leukemia (e-pub ahead of print 27 March 2013; doi:101038/leu.2013.88).
14. Laborde RR, Patnaik MM, Lasho TL, Finke CM, Hanson CA, Knudson RA et al. SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia (CMML): independent prognostic impact in CMML. Leukemia 2013.
15. Elliott MA, Hanson CA, Dewald GW, Smoley SA, Lasho TL, Tefferi A. WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature. Leukemia 2005; 19: 313-317. (Pubitemid 40220606)
16. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet 2013; 45: 18-24.
17. Pardanani A, Laborde RR, Lasho TL, Finke C, Begna K, Al-Kali A et al. Safety and efficacy of CYT387, a JAK1 and JAK2 inhibitor, in myelofibrosis. Leukemia (e-pub ahead of print 5 March 2013; doi:101038/leu.2013.71).
18. Purandare AV, McDevitt TM, Wan H, You D, Penhallow B, Han X et al. Characterization of BMS-911543, a functionally selective small-molecule inhibitor of JAK2. Leukemia 2012; 26: 280-288.