Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia

Leukemia

Volumn 27, Issue 9, 2013, Pages 1946-1949

  Kosmider, O ^a,b,c   Itzykson, R ^d,e,f   Chesnais, V ^a,b,c   Lasho, T ^g   Laborde, R ^g   Knudson, R ^h   Gauthier, A ^a,b,c   Merlevede, J ^d,e,f   Ades, L ⁱ   Morabito, M ^d,e,f   Fontenay, M ^a,b,c   Tefferi, A ^g   Droin, N ^d,e,f   Solary, E ^d,e,f  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Hôpital Cochin ^*  (France)

^d INSTITUT GUSTAVE ROUSSY   (France)

^e Universite Paris Sud   (France)

^f UNIVERSITÉ PARIS SACLAY   (France)

^g MAYO CLINIC ROCHESTER   (United States)

^h MAYO CLINIC   (United States)

ⁱ AVICENNE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLONY STIMULATING FACTOR 3 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; AUTOSOMAL DOMINANT INHERITANCE; BLOOD CELL COUNT; CANCER PROGNOSIS; CANCER SURVIVAL; CHRONIC MYELOMONOCYTIC LEUKEMIA; CHRONIC NEUTROPHILIC LEUKEMIA; CONTROLLED STUDY; EXOME; EXON; GENE FREQUENCY; GENE MUTATION; HEMATOLOGIC MALIGNANCY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; LEUKEMIA CELL; MITOTIC RECOMBINATION; MYELOID PROGENITOR CELL; NEUTROPENIA; NEUTROPHILIA; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SOMATIC MUTATION; SPLENOMEGALY; STOP CODON;

AGED; AGED, 80 AND OVER; FEMALE; HUMANS; LEUKEMIA, MYELOMONOCYTIC, CHRONIC; MALE; MIDDLE AGED; MUTATION; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RECEPTORS, COLONY-STIMULATING FACTOR;

EID: 84883741186     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.182     Document Type: Letter

References (15)

1. Beekman R, Touw IP. G-CSF and its receptor in myeloid malignancy. Blood 2010; 115: 5131-5136.
2. 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.
3. 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.
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. Ikewaki J, Kawano R, Sato T, Imamura T, Kohno K, Ogata M et al. An acquired CSF3R mutation in an adult chronic idiopathic neutropenia patient who developed acute myeloid leukaemia. Br J Haematol 2012; 157: 264-266.
6. 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.
7. 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.
8. Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agarwal A, Eide CA et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 2013; 368: 1781-1790.
9. 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; e-pub ahead of print 22 April 2013; doi:10.1038/leu.2013.122.
10. Stransky N, Egloff AM, Tward AD, Kostic AD, Cibulskis K, Sivachenko A et al. The mutational landscape of head and neck squamous cell carcinoma. Science 2011; 333: 1157-1160.
11. Yokoyama T, Okamura S, Asano Y, Kamezaki K, Numata A, Kakumitsu H et al. A novel mutation in the juxtamembrane intracellular sequence of the granulocyte colony-stimulating factor (G-CSF) receptor gene in a patient with severe congenital neutropenia augments GCSF proliferation activity but not through the MAP kinase cascade. Int J Hematol 2005; 82: 28-34. (Pubitemid 41512195)
12. 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)
13. Itzykson R, Kosmider O, Renneville A, Morabito M, Preudhomme C, Berthon C et al. Clonal architecture of chronic myelomonocytic leukemias. Blood 2013; 121: 2186-2198.
14. Damm F, Itzykson R, Kosmider O, Droin N, Renneville A, Chesnais V et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia 2013; 27: 1401-1403.
15. Itzykson R, Kosmider O, Renneville A, Gelsi-Boyer V, Meggendorfer M, Morabito M et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol 2013; 31: 2428-2436.