Homologous recombination of wild-type JAK2, a novel early step in the development of myeloproliferative neoplasm

Blood

Volumn 118, Issue 24, 2011, Pages 6468-6470

  Vilaine, Mathias ^a   Olcaydu, Damla ^b   Harutyunyan, Ashot ^b   Bergeman, Jonathan ^a   Tiab, Mourad ^c   Ramée, Jean François ^d   Chen, Jian Min ^e   Kralovics, Robert ^a   Hermouet, Sylvie ^a,f  

^a UNIVERSITÉ DE NANTES   (France)

^b ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^c Centre Hospitalier Départemental de Vendée   (France)

^d Clinique Catherine de Sienne   (France)

^e ETABLISSEMENT FRANÇAIS DU SANG   (France)

^f NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; COMPLEMENTARY DNA; CYTOKINE RECEPTOR; JANUS KINASE 2; MESSENGER RNA;

ALLELE; CD3+ T LYMPHOCYTE; CELL GROWTH; CHROMOSOME 9P; DISEASE CARRIER; EXON; GENE ACTIVATION; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GRANULOCYTE; HAPLOTYPE; HEMATOCRIT; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; INTRON; LETTER; LEUKOCYTE COUNT; MEIOSIS; MYELOPROLIFERATIVE DISORDER; MYELOPROLIFERATIVE NEOPLASM; PHENOTYPE; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRURITUS; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLENOMEGALY; THROMBOCYTE COUNT; WILD TYPE;

EID: 83455201513     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-08-372813     Document Type: Letter

References (10)

1. Hornakova T, Springuel L, Devreux J, et al. Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors. Haematologica. 2011;96(6):845-853.
2. Van Roosbroeck K, Cox L, Tousseyn T, et al. JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma. Blood. 2011;117(15):4056-4064.
3. Tiedt R, Hao-Shen H, Sobas MA, et al. Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Blood. 2008;111(8):3931-3940.
4. Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood. 2006;108(6):1865-1867. (Pubitemid 44394995)
5. Olcaydu D, Harutyunyan A, Jäger R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009;41(4):450-454.
6. James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037):1144-1148. (Pubitemid 40663494)
7. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30(3):229-236. (Pubitemid 34203729)
8. Klampfl T, Harutyunyan A, Berg T, et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood. 2011;118(1):167-76.
9. Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005;1(6):e49.
10. Boissinot M, Cleyrat C, Vilaine M, Jacques Y, Corre I, Hermouet S. Anti-inflammatory cytokines hepatocyte growth factor and interleukin-11 are overexpressed in Polycythemia vera and contribute to the growth of clonal erythroblasts independently of JAK2V617F. Oncogene. 2011;30(8):990-1001.