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24 results on '"Philippe, Nathalie"'

5. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission

Author

Nibourel, Olivier, Kosmider, Olivier, Cheok, Meyling, Boissel, Nicolas, Renneville, Aline, Philippe, Nathalie, Dombret, Hervé, Dreyfus, François, Quesnel, Bruno, Geffroy, Sandrine, Quentin, Samuel, Roche-Lestienne, Catherine, Cayuela, Jean-Michel, Roumier, Christophe, Fenaux, Pierre, Vainchenker, William, Bernard, Olivier A., Soulier, Jean, Fontenay, Michaëla, and Preudhomme, Claude

Published
2010
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8. Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Author

Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, and Holder-Espinasse, Muriel

Subjects
SYNDACTYLY, CHROMOSOME abnormalities, NYSTAGMUS, GENETIC transcription, TRANSCRIPTION factors, EMBRYOLOGY, GENE expression, DYSPLASIA
Abstract

HOXD genes encode transcription factors involved in the antero-posterior patterning of the limb bud and in the specification of fingers. During the embryo development, HOXD genes are expressed, following a spatio-temporal colinearity that involves at least three regions, centrometric and telomeric to this cluster. Here, we describe a father and a daughter presenting a 3-4 hand bilateral syndactyly associated with a nystagmus. Array-comparative genomic hybridisation showed a 3.8 Mb duplication at 2q31.1-q31.2, comprising 27 genes including the entire HOXD cluster. We performed expression studies in lymphoblasts by reverse transcription-PCR and observed an HOXD13 and HOXD10 overexpression, whereas the HOXD12 expression was decreased. HOXD13 and HOXD10 overexpression, associated with a misregulation of at least HOXD12, may therefore induce the syndactyly. Deletions of the HOXD cluster and its regulatory sequences induce hand malformations and, particularly, finger anomalies. Recently, smaller duplications of the same region have been reported in association with a mesomelic dysplasia, type Kantaputra. We discuss the variable phenotypes associated with such 2q duplications. [ABSTRACT FROM AUTHOR]

Published
2011
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9. Association of TET2 Alterations with NPM1 Mutations and Prognostic Value in De Novo Acute Myeloid Leukemia (AML).

Author

Nibourel, Olivier, Kosmider, Olivier, Cheok, Meyling, Boissel, Nicolas, Renneville, Aline, Philippe, Nathalie, Dombret, Hervé, Dreyfus, Francois, Quesnel, Bruno, Geffroy, Sandrine, Quentin, Samuel, Roche-Lestienne, Catherine, Cayuela, Jean-Michel, Roumier, Christophe, Fenaux, Pierre, Vainchenker, William, Bernard, Olivier A, Soulier, Jean, Fontenay, Michaela, and Preudhomme, Claude

Published
2009
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12. Which AML Subsets Benefit from Leukemic Cell Priming during Chemotherapy? Long-Term Analysis of the ALFA-9802 GM-CSF Study

Author

Thomas, Xavier, Raffoux, Emmanuel, Renneville, Aline, Pautas, Cécile, de Botton, Stephane, de Revel, Thierry, Reman, Oumedaly, Terre, Christine, Gardin, Claude, Le, Quoc-Hung, Philippe, Nathalie, Cordonnier, Catherine, Bourhis, Jean-Henri, Elhamri, Mohamed, Hayette, Sandrine, Parmentier, Christine, Fenaux, Pierre, Castaigne, Sylvie, Preudhomme, Claude, and Dombret, Hervé

Published
2008
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19. Molecular Characterization of the Idiopathic Hypereosinophilic Syndrome (HES) in 35 French Patients with Normal Conventional Cytogenetics.

Author

Roche-Lestienne, Catherine, Soenen-Cornu, Valerie, Kahn, Jean-Emmanuel, Lai, Jean-Luc, Hachulla, Eric, Drupt, Francois, Demarty, Anne-Laure, Gardembas, Martine, Philippe, Nathalie, Barette, Stephane, Libersa, Christian, Bletry, Olivier, Rose, Christian, Fenaux, Pierre, Prin, Lionel, and Preudhomme, Claude

Published
2004
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23. Prognostic impact of isocitrate dehydrogenase enzyme isoforms 1 and 2 mutations in acute myeloid leukemia: a study by the Acute Leukemia French Association group.

Author

Boissel N, Nibourel O, Renneville A, Gardin C, Reman O, Contentin N, Bordessoule D, Pautas C, de Revel T, Quesnel B, Huchette P, Philippe N, Geffroy S, Terre C, Thomas X, Castaigne S, Dombret H, and Preudhomme C

Subjects
Adolescent, Adult, Aged, Humans, Middle Aged, Mutation, Prevalence, Prognosis, Protein Isoforms genetics, Randomized Controlled Trials as Topic, Retrospective Studies, Young Adult, Isocitrate Dehydrogenase genetics, Leukemia, Myeloid, Acute genetics
Abstract

Purpose: Recently, whole-genome sequencing in acute myeloid leukemia (AML) identified recurrent isocitrate dehydrogenase enzyme isoform (IDH1) mutations (IDH1m), previously reported to be involved in gliomas as well as IDH2 mutations (IDH2m). The prognosis of both IDH1m and IDH2m in AML remains unclear., Patients and Methods: The prevalence and the prognostic impact of R132 IDH1 and R172 IDH2 mutations were evaluated in a cohort of 520 adults with AML homogeneously treated in the French Acute Leukemia French Association (ALFA) -9801 and -9802 trials., Results: The prevalence of IDH1m and IDH2m was 9.6% and 3.0%, respectively, mostly associated with normal cytogenetics (CN). In patients with CN-AML, IDH1m were associated with NPM1m (P = .008), but exclusive of CEBPAm (P = .03). In contrary, no other mutations were detected in IDH2m patients. In CN-AML patients, IDH1m were found in 19% of favorable genotype ([NPM1m or CEBPAm] without fms-related tyrosine kinase 3 [FLT3] internal tandem duplication [ITD]) and were associated with a higher risk of relapse (RR) and a shorter overall survival (OS). Favorable genotype in CN-AML could thus be defined by the association of NPM1m or CEBPAm with neither FLT3-ITD nor IDH1m. In IDH2m CN-AML patients, we observed a higher risk of induction failure, a higher RR and a shorter OS. In multivariate analysis, age, WBC count, the four-gene favorable genotype and IDH2m were independently associated with a higher RR and a shorter OS., Conclusion: Contrarily to what is reported in gliomas, IDH1m and IDH2m in AML are associated with a poor prognosis. Screening of IDH1m could help to identify high-risk patients within the subset of CN-AML with a favorable genotype.

Published
2010
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24. Mutations of PTPN11 are rare in adult myeloid malignancies.

Author

Hugues L, Cavé H, Philippe N, Pereira S, Fenaux P, and Preudhomme C

Subjects
Adult, Child, Genetic Predisposition to Disease, Humans, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Gene Expression Regulation, Neoplastic, Intracellular Signaling Peptides and Proteins genetics, Leukemia, Myeloid genetics, Mutation, Protein Tyrosine Phosphatases genetics
Abstract

The PTPN11 gene encodes the phospho-tyrosyine phosphatase protein SHP-2. Constitutional mutations of this gene are involved in Noonan's syndrome, a developmental disorder in which children have a predisposition to develop a myeloid disorder called juvenile myelomonocytic leukemia. Recently, studies have shown that somatic mutations of PTPN11 can be found in children with myeloid malignancies. We evaluated the incidence of acquired mutation of PTPN11 in 76 adults with acute or chronic myeloid malignancies and summarized our results together with others published recently.

Published
2005

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