G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia

Haematologica

Volumn 94, Issue 10, 2009, Pages 1449-1452

  Beel, Karolien ^a   Vandenberghe, Peter ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Acute myeloid leukemia; G CSF; X linked neutropenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; BONE MARROW; GENE MUTATION; GENOTYPE; HUMAN; KARYOTYPE; LEUKOCYTE COUNT; METAPHASE; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NEUTROPHIL COUNT; REFRACTORY ANEMIA WITH EXCESS BLASTS; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; GENETIC DISEASES, X-LINKED; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MUTATION; MYELODYSPLASTIC SYNDROMES; NEUTROPENIA; PEDIGREE; RECEPTORS, GRANULOCYTE COLONY-STIMULATING FACTOR;

EID: 70349645650     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.009001     Document Type: Article

References (28)

1. Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001;27:313-317 (Pubitemid 32201854)
2. Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 2006;108:2182-2189 (Pubitemid 44497498)
3. Beel K, Cotter MM, Blatny J, Bond J, Lucas G, Green F, et al. A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. Br J Haematol 2009;144:120-126
4. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
5. Dale DC, Link DC. The many causes of severe congenital neutropenia. N Engl J Med 2009;360:3-5.
6. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007;39:86-92. (Pubitemid 46026506)
7. Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007;109:1817-1824 (Pubitemid 46348175)
8. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32-43.
9. Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009;144:459-467
10. Donadieu J, Leblanc T, Bader Meunier B, Barkaoui M, Fenneteau O, Bertrand Y, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 2005; 90:45-53.
11. Dong F, Dale DC, Bonilla MA, Freedman M, Fasth A, Neijens HJ, et al. Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia 1997;11: 120-125 (Pubitemid 27065058)
12. Freedman MH, Bonilla MA, Fier C, Bolyard AA, Scarlata D, Boxer LA, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000;96: 429-436 (Pubitemid 30463359)
13. 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)
14. Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006;107:4628-4635 (Pubitemid 43882607)
15. Dong F, Brynes RK, Tidow N, Welte K, Lowenberg B, Touw IP. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 1995;333:487-493
16. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982;51: 189-199
17. Luna-Fineman S, Shannon KM, Lange BJ. Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood 1995;85: 1985-1999
18. Brozek I, Babinska M, Kardas I, Wozniak A, Balcerska A, Hellmann A, et al. Cytogenetic analysis and clinical significance of chromosome 7 aberrations in acute leukaemia. J Appl Genet 2003;44:401-412 (Pubitemid 37123422)
19. Barrios NJ, Kirkpatrick DV, Levin ML, Varela M. Transient expression of trisomy 21 and monosomy 7 following cyclosporin A in a patient with aplastic anemia. Leuk Res 1991;15:531-533
20. Perkins D, Brennan S, Carstairs K, Bailey D, Pantalony D, Poon A, et al. Regional cancer cytogenetics: a report on 1,143 diagnostic cases. Cancer Genet Cytogenet 1997;96: 64-80. (Pubitemid 27274490)
21. Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 2008; 140:210-213 (Pubitemid 350265043)
22. Yetgin S, Germeshausen M, Touw I, Koc A, Olcay L. Acute lymphoblastic leukemia in a patient with congenital neutropenia without G-CSFR and ELA2 mutations. Leukemia 2005;19:1710-1711 (Pubitemid 43090432)
23. Badolato R, Fontana S, Notarangelo LD, Savoldi G. Congenital neutropenia: advances in diagnosis and treatment. Curr Opin Allergy Clin Immunol 2004;4:513-521 (Pubitemid 39573725)
24. Carlsson G, Aprikyan AA, Ericson KG, Stein S, Makaryan V, Dale DC, et al. Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Haematologica 2006;91:589-595 (Pubitemid 43799452)
25. Ward AC, Gits J, Majeed F, Aprikyan AA, Lewis RS, O'Sullivan LA, et al. Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. Br J Haematol 2008;142:653-656 (Pubitemid 352020207)
26. Aprikyan AA, Kutyavin T, Stein S, Aprikian P, Rodger E, Liles WC, et al. Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. Exp Hematol 2003;31:372-381 (Pubitemid 36579362)
27. 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
28. Ward AC. The role of granulocyte colony-stimulating factor receptor (G-CSF-R) in disease. Frontiers in Bioscience 2007;12:608-618