Background NOTCH1 mutations have been associated with a favorable outcome in pediatric acute T-lymphoblastic leukemia However, the results of studies on the prognostic significance of NOTCH1 mutations in adult T-lymphoblastic leukemia remain controversial. Design and Methods Here we have investigated the prognostic impact of mutations in the NOTCH1 pathway, in particular, the NOTCH1 and FBXW7 genes, in a large cohort of adult patients with T-lymphoblastic leukemia (n=126). We determined the occurrence Of Mutations In NOTCH1 and FBXW7 by DNA amplification and direct sequencing of polymerase chain reaction products Results Mutations were identified in 57% and 12% of the NOTCH1 and FBXW7 genes, respectively. The characteristics of patients carrying NOTCH1 and/or FBXW7 (NOTCH1-FBXW7) mutations were similar to those with wild-type genes Patients with NOTCH1-FBXW7 mutations more often showed a thymic immunophenotype (p=0.001) In the over-all cohort; no significant differences were seen in the complete remission or event-free survival rates between patients with mutated or wild-type NOTCH1-FBXW7 (p=0.39) Conclusions NOTCH1 and FBXW7 mutations were not predictive of outcome in the overall cohort of adult patients with T-lymphoblastic leukemia. but there was a trend towards a favorable prognostic impact of NOTCH1-FBXW7 mutations in the small subgroup of patients with low-risk ERG/BAALC expression status. Our findings further confirm the high frequency of NOTCH1 mutations in adult T-lymphoblastic leukemia
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Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, France
INSERM, EMI0210, F-75654 Paris 13, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Asnafi, Vahid
Buzyn, Agnes
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Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Buzyn, Agnes
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Le Noir, Sandrine
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Baleydier, Frederic
Simon, Arnauld
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Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Simon, Arnauld
Beldjord, Kheira
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h-index: 0
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Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, France
INSERM, EMI0210, F-75654 Paris 13, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Beldjord, Kheira
Reman, Oumedaly
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h-index: 0
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Ctr Hosp, Dept Hematol, Caen, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Reman, Oumedaly
Witz, Francis
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h-index: 0
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Hop Brabois, Dept Hematol, Vandoeuvre Les Nancy, France
Hop Brabois, Lab Immunophenotypage, Vandoeuvre Les Nancy, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Witz, Francis
Fagot, Thierry
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Hop Instruct Armees Percy, Dept Hematol, Clamart, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Fagot, Thierry
Tavernier, Emmanuelle
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h-index: 0
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Inst Cancerol Loire, Dept Hematol, St Priest En Jarez, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Tavernier, Emmanuelle
Turlure, Pascal
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Ctr Hosp Dupuytren, Dept Hematol, Limoges, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Turlure, Pascal
Leguay, Thibaut
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h-index: 0
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Ctr Hosp Haut Leveque, Dept Hematol, Pessac, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Leguay, Thibaut
Huguet, Francoise
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h-index: 0
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Hop Purpan, Dept Hematol, Toulouse, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Huguet, Francoise
Vernant, Jean-Paul
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Hop La Pitie Salpetriere, Dept Hematol, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Vernant, Jean-Paul
Daniel, Francis
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Hop Purpan, Dept Hematol, Toulouse, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Daniel, Francis
Bene, Marie-Christine
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h-index: 0
机构:
Hop Brabois, Dept Hematol, Vandoeuvre Les Nancy, France
Hop Brabois, Lab Immunophenotypage, Vandoeuvre Les Nancy, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Bene, Marie-Christine
Ifrah, Norbert
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Ctr Hosp, Dept Hematol, Angers, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Ifrah, Norbert
Thomas, Xavier
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h-index: 0
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Hop Edouard Herriot, Dept Hematol, Lyon, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Thomas, Xavier
Dombret, Herve
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h-index: 0
机构:
Hop St Louis, Dept Hematol, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Dombret, Herve
Macintyre, Elizabeth
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h-index: 0
机构:
Hop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, France
INSERM, EMI0210, F-75654 Paris 13, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
机构:
Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, France
INSERM, EMI0210, F-75654 Paris 13, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Asnafi, Vahid
Buzyn, Agnes
论文数: 0引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Buzyn, Agnes
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Le Noir, Sandrine
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Baleydier, Frederic
Simon, Arnauld
论文数: 0引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Simon, Arnauld
Beldjord, Kheira
论文数: 0引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, France
INSERM, EMI0210, F-75654 Paris 13, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Beldjord, Kheira
Reman, Oumedaly
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Hosp, Dept Hematol, Caen, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Reman, Oumedaly
Witz, Francis
论文数: 0引用数: 0
h-index: 0
机构:
Hop Brabois, Dept Hematol, Vandoeuvre Les Nancy, France
Hop Brabois, Lab Immunophenotypage, Vandoeuvre Les Nancy, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Witz, Francis
Fagot, Thierry
论文数: 0引用数: 0
h-index: 0
机构:
Hop Instruct Armees Percy, Dept Hematol, Clamart, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Fagot, Thierry
Tavernier, Emmanuelle
论文数: 0引用数: 0
h-index: 0
机构:
Inst Cancerol Loire, Dept Hematol, St Priest En Jarez, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Tavernier, Emmanuelle
Turlure, Pascal
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Hosp Dupuytren, Dept Hematol, Limoges, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Turlure, Pascal
Leguay, Thibaut
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Hosp Haut Leveque, Dept Hematol, Pessac, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Leguay, Thibaut
Huguet, Francoise
论文数: 0引用数: 0
h-index: 0
机构:
Hop Purpan, Dept Hematol, Toulouse, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Huguet, Francoise
Vernant, Jean-Paul
论文数: 0引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Dept Hematol, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Vernant, Jean-Paul
Daniel, Francis
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h-index: 0
机构:
Hop Purpan, Dept Hematol, Toulouse, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Daniel, Francis
Bene, Marie-Christine
论文数: 0引用数: 0
h-index: 0
机构:
Hop Brabois, Dept Hematol, Vandoeuvre Les Nancy, France
Hop Brabois, Lab Immunophenotypage, Vandoeuvre Les Nancy, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Bene, Marie-Christine
Ifrah, Norbert
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Hosp, Dept Hematol, Angers, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Ifrah, Norbert
Thomas, Xavier
论文数: 0引用数: 0
h-index: 0
机构:
Hop Edouard Herriot, Dept Hematol, Lyon, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Thomas, Xavier
Dombret, Herve
论文数: 0引用数: 0
h-index: 0
机构:
Hop St Louis, Dept Hematol, Paris, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Dombret, Herve
Macintyre, Elizabeth
论文数: 0引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Hematol, F-75015 Paris, France
Univ Paris 05, Paris, France
INSERM, EMI0210, F-75654 Paris 13, FranceHop Necker Enfants Malad, Hematol Lab, AP HP, F-75015 Paris, France