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256 results on '"LAFAGE POCHITALOFF, M"'

2. Cytogenetics and outcome of allogeneic transplantation in first remission of acute myeloid leukemia: the French pediatric experience

Author

Alloin, A-L, Leverger, G, Dalle, J-H, Galambrun, C, Bertrand, Y, Baruchel, A, Auvrignon, A, Gandemer, V, Ragu, C, Loundou, A, Bilhou-Nabera, C, Lafage-Pochitaloff, M, Dastugue, N, Nelken, B, Jubert, C, Rialland, F, Plat, G, Pochon, C, Vannier, J-P, Rohrlich, P-S, Kanold, J, Lutz, P, Sirvent, A, Oudin, C, Cuccuini, W, and Michel, G

Published
2017
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3. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis

Author

Struski, S, Lagarde, S, Bories, P, Puiseux, C, Prade, N, Cuccuini, W, Pages, M-P, Bidet, A, Gervais, C, Lafage-Pochitaloff, M, Roche-Lestienne, C, Barin, C, Penther, D, Nadal, N, Radford-Weiss, I, Collonge-Rame, M-A, Gaillard, B, Mugneret, F, Lefebvre, C, Bart-Delabesse, E, Petit, A, Leverger, G, Broccardo, C, Luquet, I, Pasquet, M, and Delabesse, E

Published
2017
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4. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Author

Lafage-Pochitaloff, M., Gerby, B., Baccini, V., Largeaud, L., Fregona, V., Prade, N., Juvin, P.Y., Jamrog, L.A., Bories, P., Hébrard, S., Lagarde, S., Mansat-De Mas, V., Dovey, O.M., Yusa, K., Vassiliou, G.S., Jansen, J.H., Tekath, T., Rombaut, D., Ameye, G., Barin, C., Bidet, A., Boudjarane, J., Collonge-Rame, M.A., Gervais, C., Ittel, A., Lefebvre, C., Luquet, I., Michaux, L., Nadal, N., Antoine-Poirel, H., Radford-Weiss, I., Ribourtout, B., Richebourg, S., Struski, S., Terré, C., Tigaud, I., Penther, D., Eclache, V., Fontenay, M., Broccardo, C., Delabesse, E., Lafage-Pochitaloff, M., Gerby, B., Baccini, V., Largeaud, L., Fregona, V., Prade, N., Juvin, P.Y., Jamrog, L.A., Bories, P., Hébrard, S., Lagarde, S., Mansat-De Mas, V., Dovey, O.M., Yusa, K., Vassiliou, G.S., Jansen, J.H., Tekath, T., Rombaut, D., Ameye, G., Barin, C., Bidet, A., Boudjarane, J., Collonge-Rame, M.A., Gervais, C., Ittel, A., Lefebvre, C., Luquet, I., Michaux, L., Nadal, N., Antoine-Poirel, H., Radford-Weiss, I., Ribourtout, B., Richebourg, S., Struski, S., Terré, C., Tigaud, I., Penther, D., Eclache, V., Fontenay, M., Broccardo, C., and Delabesse, E.

Abstract

Item does not contain fulltext

Published
2022

6. PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study

Author

Familiades, J, Bousquet, M, Lafage-Pochitaloff, M, Béné, M-C, Beldjord, K, De Vos, J, Dastugue, N, Coyaud, E, Struski, S, Quelen, C, Prade-Houdellier, N, Dobbelstein, S, Cayuela, J-M, Soulier, J, Grardel, N, Preudhomme, C, Cavé, H, Blanchet, O, Lhéritier, V, Delannoy, A, Chalandon, Y, Ifrah, N, Pigneux, A, Brousset, P, Macintyre, E A, Huguet, F, Dombret, H, Broccardo, C, and Delabesse, É

Published
2009
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7. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)

Author

Luquet, I, Laï, J L, Barin, C, Baranger, L, Bilhou-Nabera, C, Lippert, E, Gervais, C, Talmant, P, Cornillet-Lefebvre, P, Perot, C, Nadal, N, Mozziconacci, M J, Lafage-Pochitaloff, M, Eclache, V, Mugneret, F, Lefebvre, C, Herens, C, Speleman, F, Poirel, H, Tigaud, I, Cabrol, C, Rousselot, P, Daliphard, S, Imbert, M, Garand, R, Geneviève, F, Berger, R, and Terre, C

Published
2008
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8. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

Author

Cauwelier, B, Cavé, H, Gervais, C, Lessard, M, Barin, C, Perot, C, Van den Akker, J, Mugneret, F, Charrin, C, Pagès, M P, Grégoire, M-J, Jonveaux, P, Lafage-Pochitaloff, M, Mozzicconacci, M J, Terré, C, Luquet, I, Cornillet-Lefebvre, P, Laurence, B, Plessis, G, Lefebvre, C, Leroux, D, Antoine-Poirel, H, Graux, C, Mauvieux, L, Heimann, P, Chalas, C, Clappier, E, Verhasselt, B, Benoit, Y, Moerloose, B D, Poppe, B, Van Roy, N, Keersmaecker, K D, Cools, J, Sigaux, F, Soulier, J, Hagemeijer, A, Paepe, A D, Dastugue, N, Berger, R, and Speleman, F

Published
2007
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10. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique

Author

Romana, S P, Radford-Weiss, I, Ben Abdelali, R, Schluth, C, Petit, A, Dastugue, N, Talmant, P, Bilhou-Nabera, C, Mugneret, F, Lafage-Pochitaloff, M, Mozziconacci, M-J, Andrieu, J, Lai, J-L, Terre, C, Rack, K, Cornillet-Lefebvre, P, Luquet, I, Nadal, N, Nguyen-Khac, F, Perot, C, Van den Akker, J, Fert-Ferrer, S, Cabrol, C, Charrin, C, Tigaud, I, Poirel, H, Vekemans, M, Bernard, O A, and Berger, R

Published
2006
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11. Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome–acute myeloid leukemia actually differ?

Author

Lessard, M., Hélias, C., Struski, S., Perrusson, N., Uettwiller, F., Mozziconacci, M.-J., Lafage-Pochitaloff, M., Dastugue, N., Terré, C., Brizard, F., Cornillet-Lefebvre, P., Mugneret, F., Barin, C., Herry, A., Luquet, I., Desangles, F., Michaux, L., Verellen-Dumoulin, C., Perrot, C., Van den Akker, J., Lespinasse, J., Eclache, V., and Berger, R.

Published
2007
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12. Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia

Author

Terre, C, Eclache, V, Rousselot, P, Imbert, M, Charrin, C, Gervais, C, Mozziconacci, M J, Maarek, O, Mossafa, H, Auger, N, Dastugue, N, Talmant, P, Van den Akker, J, Leonard, C, Khac, F N'Guyen, Mugneret, F, Viguié, F, Lafage-Pochitaloff, M, Bastie, J N, Roux, G L, Nicolini, F, Maloisel, F, Vey, N, Laurent, G, Recher, C, Vigier, M, Yacouben, Y, Giraudier, S, Vernant, J P, Salles, B, Roussi, J, Castaigne, S, Leymarie, V, Flandrin, G, and Lessard, M

Published
2004
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13. t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)

Author

Berger, R, Dastugue, N, Busson, M, van den Akker, J, Pérot, C, Ballerini, P, Hagemeijer, A, Michaux, L, Charrin, C, Pages, M P, Mugneret, F, Andrieux, J, Talmant, P, Hélias, C, Mauvieux, L, Lafage-Pochitaloff, M, Mozziconacci, M-J, Cornillet-Lefebvre, P, Radford, I, Asnafi, V, Bilhou-Nabera, C, Nguyen Khac, F, Léonard, C, Speleman, F, Poppe, B, Bastard, C, Taviaux, S, Quilichini, B, Herens, C, Grégoire, M-J, Cavé, H, and Bernard, O A

Published
2003
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18. Cytogenetic study of 75 erythroleukemias

Author

Lessard, M., Struski, S., Leymarie, V., Flandrin, G., Lafage-Pochitaloff, M., Mozziconacci, M.-J., Talmant, P., Bastard, C., Charrin, C., Baranger, L., Hélias, C., Cornillet-Lefebvre, P., Mugneret, F., Cabrol, C., Pagès, M.-P., Fert-Ferret, D., Nguyen-Khac, F., Quilichini, B., Barin, C., Berger, R., and the Groupe Français d'Hématologie Cellulaire (GFHC)

Published
2005
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20. B-Cell Acute Lymphoblastic Leukemia (B-ALL) with T (5;14)(Q31;Q32);IGH-IL3 Rearrangement and Eosinophilia: A Peculiar IGH-Rearranged B-ALL

Author

Fournier, B., Balducci, E., Duployez, N., Clappier, E., Cuccuini, W., Cavé, H., Colomb, E. Bottollier-Lemallaz, Nebral, K., Derrieux, C., Cabannes-Hamy, A., Etancelin, P., Fenneteau, O., Gourmel, A., Loosveld, Marie, Gerard, M., Nadal, N., Reismueller, B., Attarbaschi, A., Lafage-Pochitaloff, M., Baruchel, A., Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de recherche pour le développement [IRD] : UR206-Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), St. Anna Children's Hospital, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Muséum national d'Histoire naturelle (MNHN)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de recherche pour le développement [IRD] : UR206-Centre National de la Recherche Scientifique (CNRS), and Saint Anna Children's Hospital [Vienne] = St Anna Kinderspital (St. Anna Children's Hospital)

Subjects
[SDV.IMM]Life Sciences [q-bio]/Immunology
Published
2019

28. Dasatinib and low-intensity chemotherapy in elderly patients with Philadelphia chromosome-positive ALL

Author

Rousselot, P, Coudé, M, Gokbuget, N, Gambacorti Passerini, C, Hayette, S, Cayuela, J, Huguet, F, Leguay, T, Chevallier, P, Salanoubat, C, Bonmati, C, Alexis, M, Hunault, M, Glaisner, S, Agape, P, Berthou, C, Jourdan, E, Fernandes, J, Sutton, L, Banos, A, Reman, O, Lioure, B, Thomas, X, Ifrah, N, Lafage-Pochitaloff, M, Bornand, A, Morisset, L, Robin, V, Pfeifer, H, Delannoy, A, Ribera, J, Bassan, R, Delord, M, Hoelzer, D, Dombret, H, Ottmann, O, Rousselot, P, Coudé, M, Gokbuget, N, Gambacorti Passerini, C, Hayette, S, Cayuela, J, Huguet, F, Leguay, T, Chevallier, P, Salanoubat, C, Bonmati, C, Alexis, M, Hunault, M, Glaisner, S, Agape, P, Berthou, C, Jourdan, E, Fernandes, J, Sutton, L, Banos, A, Reman, O, Lioure, B, Thomas, X, Ifrah, N, Lafage-Pochitaloff, M, Bornand, A, Morisset, L, Robin, V, Pfeifer, H, Delannoy, A, Ribera, J, Bassan, R, Delord, M, Hoelzer, D, Dombret, H, and Ottmann, O

Abstract

Prognosis of Philadelphia-positive (Ph1) acutelymphoblastic leukemia (ALL) in the elderly has improved during the imatinib era. We investigated dasatinib, another potent tyrosine kinase inhibitor, in combination with low-intensity chemotherapy. Patients older than age 55 years were included in the European Working Group on Adult ALL(EWALL) study number 01 for Ph+ ALL (EWALL-PH-01 international study) and were treated with dasatinib 140 mg/day (100 mg/day over 70 years) with intrathecal chemotherapy, vincristine, and dexamethasone during induction. Patients in complete remission continued consolidation with dasatinib, sequentially with cytarabine, asparaginase, and methotrexate for 6 months. Maintenance therapy was dasatinib and vincristine/dexamethasone reinductions for 18months followed by dasatinib until relapse or death. Seventy-one patients with amedian age of 69 years were enrolled; 77% had a high comorbidity score.Complete remission ratewas 96% and 65% of patients achieved a3-logreduction inBCR-ABL1transcript levelsduringconsolidation.Only7patientsunderwent allogeneic hematopoietic stemcell transplantation. At 5 years, overall survivalwas 36% and up to 45% taking into account deaths unrelated to disease or treatment as competitors. Thirty-six patients relapsed, 24were tested formutation bySanger sequencing, and 75%were T315I-positive.BCR-ABL1T315Iwastested by allele-specific oligonucleotide reverse transcription-quantitative polymerase chain reaction in 43 patients and detection was associated with short-term relapses. Ten patients (23%) were positive before any therapy and 8 relapsed, all with this mutation. In conclusion, dasatinib combined with low-intensity chemotherapy was well-tolerated and gave long-term survival in 36% of elderly patients with Ph+ ALL. Monitoring of BCRABL1T315I from diagnosis identified patientswith at high risk of early relapse and may help to personalize therapy.

Published
2016

29. Characterization of acute promyelocytic leukemia cases lacking the classic t(15;17)

Author

Grimwade, D., Biondi, A., Mozziconacci, M.J., Hagemeijer, A., Berger, R.A., Neat, M., Howe, K., Dastugue, N., Jansen, J.H., Radford-Weiss, I., Lo Coco, F., Lessard, M., Hernandez, J.M., Delabesse, E., Head, D., Liso, V., Sainty, D., Flandrin, G., Solomon, E., Birg, F., and Lafage-Pochitaloff, M.

Subjects
Hematopoiesis and stem cell transplantation
Abstract

Item does not contain fulltext

Published
2000

30. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis

Author

Struski, S, primary, Lagarde, S, additional, Bories, P, additional, Puiseux, C, additional, Prade, N, additional, Cuccuini, W, additional, Pages, M-P, additional, Bidet, A, additional, Gervais, C, additional, Lafage-Pochitaloff, M, additional, Roche-Lestienne, C, additional, Barin, C, additional, Penther, D, additional, Nadal, N, additional, Radford-Weiss, I, additional, Collonge-Rame, M-A, additional, Gaillard, B, additional, Mugneret, F, additional, Lefebvre, C, additional, Bart-Delabesse, E, additional, Petit, A, additional, Leverger, G, additional, Broccardo, C, additional, Luquet, I, additional, Pasquet, M, additional, and Delabesse, E, additional

Published
2016
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31. t(8;21)(q22;q22) with the AML1-ETO fusion gene transcript - in:'Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe Against Cancer program'

Author

Aerts, J. L. E., Grimwade, D., Vandekerckhove, P., Navarrete, A., Flora, R., Krauter, J., Heil, G., Viehmann, S., Preudhomme, C., GRARDEL DUFLOS, N., Pane, F., Intrieri, Mariano, Salvatore, F., Cross, N., Kaeda, J., Malec, M., Porwitt, A., Toyron, Y., Mozziconacci, Mj, and LAFAGE POCHITALOFF, M.

Published
2003

34. Reciprocal translocations in breast tumor cell lines: Cloning of a t(3;20) that targets the FHIT gene

Author

Popovici, C., Basset, C., Bertucci, F., Orsetti, A., Adelaide, J., Mozziconacci, M. J., Conte, N., Murati, A., Ginestier, C., Charafe-Jauffret, E., Ethier, S. P., Lafage-Pochitaloff, M., Theillet, C., Birnbaum, D., Chaffanet, M., Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Sol Agro et hydrosystème Spatialisation (SAS), Institut National de la Recherche Agronomique (INRA)-AGROCAMPUS OUEST, Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Cancérologie (Inserm U599/IPC), Université de la Méditerranée - Aix-Marseille 2-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Collège de France (CdF)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Cancérologie, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)

Subjects
[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, comparative genomic hybridization clonal chromosome-abnormalities molecular cytogenetic analysis DNA amplification gamma-heregulin deficient mice cancer carcinomas expression region
Abstract

All molecular alterations that lead to breast cancer are not precisely known. We are evaluating the frequency and consequences of reciprocal translocations in breast cancer. We surveyed 15 mammary cell lines by multicolor fluorescence in situ hybridization (M-FISH). We identified nine apparently reciprocal translocations. Using mBanding FISH and FISH with selected YAC clones, we identified the breakpoints for four of them, and cloned the t(3;20)(p 14;p 11) found in the BrCa-MZ-02 cell line. We found that the breakpoint targets the potential tumor-suppressor gene FHIT (fragile histidine triad) in the FRA3B region; it is accompanied by homozygous deletion of exon 5 of the gene and absence of functional FHIT and fusion transcripts, which leads to the loss of FHIT protein expression. Additional experiments using comparative genomic hybridization provided further information on the genomic context in which the t(3;20)(p 14;p 11) reciprocal translocation was found. (C) 2002 Wiley-Liss, Inc.

Published
2002

35. Identification of a novel CBFB-MYH11 transcript: implications for RT-PCR diagnosis

Author

Reijden, B.A. van der, Wit, L. de, Poel, S.C. van der, Luiten, E.B., Lafage-Pochitaloff, M., Dastugue, N., Gabert, J., Lowenberg, B., Jansen, J.H., and Hematology

Subjects
CHL
Abstract

Item does not contain fulltext INTRODUCTION:: The chromosome rearrangements inv(16)(p13q22) or t(16;16)(p13;q22) are present in approximately 10% of all cases with de novo acute myeloid leukemia and define a subgroup with a favorable prognosis. Both aberrations result in a CBFB-MYH11 fusion gene that can be detected by RT-PCR. PATIENTS AND METHODS:: To date, a total of 10 different in-frame CBFB-MYH11 fusion transcripts have been identified. A newly described transcript can not be amplified with the commonly used PCR primers since the MYH11 junction is located outside the amplified region (MYH11 cDNA position 2134). RESULTS:: We describe here a robust two-step RT-PCR assay that reliably detects all known CBFB-MYH11 transcripts types, including the new variant. CONCLUSION:: Because all previously established RT-PCR protocols may miss the new CBFB-MYH11 transcript, we propose to use the improved RT-PCR approach described here for the reliable detection of all known CBFB-MYH11 fusion transcripts.

Published
2001

37. Myeloid cell differentiation arrest by miR-125b-1 in myelodysplasic syndrome and acute myeloid leukemia with the t(2;11)(p21;q23) translocation

Author

Bousquet, M. (Marina), Quelen, C. (Cathy), Rosati, R. (Roberto), Mas, V.M.D., Starza, R.L. (Roberta), Bastard, C. (Christian), Lippert, E. (Eric), Talmant, P. (Pascaline), Lafage-Pochitaloff, M. (Marina), Leroux, D. (Dominique), Gervais, C. (Carine), Viguié, F. (Franck), Lai, J.L., Terre, C. (Christine), Beverloo, H.B. (Berna), Sambani, C. (Costantina), Hagemeijer, A. (Anne), Marynen, P. (Peter), Delsol, G. (Georges), Dastugue, N. (Nicole), Mecucci, C. (Cristina), Brousset, P. (Pierre), Bousquet, M. (Marina), Quelen, C. (Cathy), Rosati, R. (Roberto), Mas, V.M.D., Starza, R.L. (Roberta), Bastard, C. (Christian), Lippert, E. (Eric), Talmant, P. (Pascaline), Lafage-Pochitaloff, M. (Marina), Leroux, D. (Dominique), Gervais, C. (Carine), Viguié, F. (Franck), Lai, J.L., Terre, C. (Christine), Beverloo, H.B. (Berna), Sambani, C. (Costantina), Hagemeijer, A. (Anne), Marynen, P. (Peter), Delsol, G. (Georges), Dastugue, N. (Nicole), Mecucci, C. (Cristina), and Brousset, P. (Pierre)

Abstract

Most chromosomal translocations in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) involve oncogenes that are either up-regulated or form part of new chimeric genes. The t(2;11)(p21;q23) translocation has been cloned in 19 cases of MDS and AML. In addition to this, we have shown that this translocation is associated with a strong up-regulation of miR-125b (from 6- to 90-fold). In vitro experiments revealed that miR-125b was able to interfere with primary human CD34+cell differentiation, and also inhibited terminal (monocytic and granulocytic) differentiation in HL60 and NB4 leukemic cell lines. Therefore, miR-125b up-regulation may represent a new mechanism of myeloid cell transformation, and myeloid neoplasms carrying the t(2;11) translocation define a new clinicopathological entity.

Published
2008
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40. Report of 38 patients with hyperdiploid karyotype in acute myeloid leukemia: A groupe francais de cytogenetique hematologique study

Author

UCL - MD/MINT - Département de médecine interne, Terre, C., Luquet, I., Laie, J. L., Barin, C., Baranger, L., Bilhou-Nabera, C., Lippert, E., Gervais, C., Talmant, P., Cornillet-Lefebvre, P., Perot, C., Nadal, N., Mozziconacci, Marie-Joëlle, Lafage-Pochitaloff, M., Eclache, V., Mugneret, Francine, Lefebvre, Chantal, Herens, C., Speleman, F., Poirel, Hélène, Tigaud, I., Cabrol, C., Rousselot, P., Castaigne, S., Berger, R., 12th Congress of the European-Hematology-Association, UCL - MD/MINT - Département de médecine interne, Terre, C., Luquet, I., Laie, J. L., Barin, C., Baranger, L., Bilhou-Nabera, C., Lippert, E., Gervais, C., Talmant, P., Cornillet-Lefebvre, P., Perot, C., Nadal, N., Mozziconacci, Marie-Joëlle, Lafage-Pochitaloff, M., Eclache, V., Mugneret, Francine, Lefebvre, Chantal, Herens, C., Speleman, F., Poirel, Hélène, Tigaud, I., Cabrol, C., Rousselot, P., Castaigne, S., Berger, R., and 12th Congress of the European-Hematology-Association

Published
2007

41. Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique

Author

UCL - Cliniques universitaires Saint-Luc, UCL - MD/MINT - Département de médecine interne, Jeandidier, E, Michaux, Lucienne, Dastugue, N., Mugneret, Francine, Lafage-Pochitaloff, M., Mozziconacci, Marie-Joëlle, Herens, C., Dumoulin, Christine, Talmant, P., Cornillet-Lefebvre, P., Luquet, I., Charrin, C., Barin, C., Collonge-Rame, MA, Perot, C., Van den Akker, J., Gregoire, MJ, Jonveaux, P., Baranger, L., Eclache-Saudreau, V, Pages, MP., Cabrol, C., Terre, C., Berger, R., UCL - Cliniques universitaires Saint-Luc, UCL - MD/MINT - Département de médecine interne, Jeandidier, E, Michaux, Lucienne, Dastugue, N., Mugneret, Francine, Lafage-Pochitaloff, M., Mozziconacci, Marie-Joëlle, Herens, C., Dumoulin, Christine, Talmant, P., Cornillet-Lefebvre, P., Luquet, I., Charrin, C., Barin, C., Collonge-Rame, MA, Perot, C., Van den Akker, J., Gregoire, MJ, Jonveaux, P., Baranger, L., Eclache-Saudreau, V, Pages, MP., Cabrol, C., Terre, C., and Berger, R.

Abstract

Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with hands 1q25, 2p21, 2q37, 3p21, 3p23, 4q31, 6p24-p25, 6p12, 7p15, 16p11, and 18q21 were detected. Rearrangements of band 21q11 and 21q21 were detected in six novel translocations with 5p15, 6p21, 15q21, 16p13, and 20q11 and with 1p33, 3q27, 5p14, 11q11, and 14q11, respectively. Duplications, triplications, amplifications, and isodicentric chromosomes were detected in eight, three, eight, and three patients, respectively. The present study shows both the wide distribution of the breakpoints on the long arm of chromosome 21 in hematopoietic malignancy and the diversity of the chromosomal rearrangements and the hematologic disorders involved. The findings invite further investigation of the 21q abnormalities to detect their associated molecular rearrangements. (c) 2006 Elsevier Inc. All rights reserved.

Published
2006

42. NUP98is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis

Author

Struski, S, Lagarde, S, Bories, P, Puiseux, C, Prade, N, Cuccuini, W, Pages, M-P, Bidet, A, Gervais, C, Lafage-Pochitaloff, M, Roche-Lestienne, C, Barin, C, Penther, D, Nadal, N, Radford-Weiss, I, Collonge-Rame, M-A, Gaillard, B, Mugneret, F, Lefebvre, C, Bart-Delabesse, E, Petit, A, Leverger, G, Broccardo, C, Luquet, I, Pasquet, M, and Delabesse, E

Abstract

Pediatric acute myeloid leukemia (AML) is a rare disease whose prognosis is highly variable according to factors such as chromosomal abnormalities. Recurrent genomic rearrangements are detected in half of pediatric AML by karyotype. NUcleoPorin 98(NUP98) gene is rearranged with 31 different fusion partner genes. These rearrangements are frequently undetected by conventional cytogenetics, as the NUP98gene is located at the end of the chromosome 11 short arm (11p15). By screening a series of 574 pediatric AML, we detected a NUP98rearrangement in 22 cases (3.8%), a frequency similar to CBFB-MYH11fusion gene (4.0%). The most frequent NUP98fusion gene partner is NSD1. These cases are homogeneous regarding their biological and clinical characteristics, and associated with bad prognosis only improved by bone marrow transplantation. We detailed the biological characteristics of these AML by exome sequencing which demonstrated few recurrent mutations (FLT3ITD, WT1, CEBPA, NBPF14, BCRand ODF1). The analysis of the clonal structure in these cases suggests that the mutation order in the NUP98-rearranged pediatric AML begins with the NUP98rearrangement leading to epigenetic dysregulations then followed by mutations of critical hematopoietic transcription factors and finally, activation of the FLT3 signaling pathway.

Published
2017
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44. NUP98–HMGB3: a novel oncogenic fusion

Author

Petit, A, primary, Ragu, C, additional, Della-Valle, V, additional, Mozziconacci, M J, additional, Lafage-Pochitaloff, M, additional, Soler, G, additional, Schluth, C, additional, Radford, I, additional, Ottolenghi, C, additional, Bernard, O A, additional, Penard-Lacronique, V, additional, and Romana, S P, additional

Published
2009
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45. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)

Author

Luquet, I, primary, Laï, J L, additional, Barin, C, additional, Baranger, L, additional, Bilhou-Nabera, C, additional, Lippert, E, additional, Gervais, C, additional, Talmant, P, additional, Cornillet-Lefebvre, P, additional, Perot, C, additional, Nadal, N, additional, Mozziconacci, M J, additional, Lafage-Pochitaloff, M, additional, Eclache, V, additional, Mugneret, F, additional, Lefebvre, C, additional, Herens, C, additional, Speleman, F, additional, Poirel, H, additional, Tigaud, I, additional, Cabrol, C, additional, Rousselot, P, additional, Daliphard, S, additional, Imbert, M, additional, Garand, R, additional, Geneviève, F, additional, Berger, R, additional, and Terre, C, additional

Published
2007
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46. Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.

Author

Reijden, B.A. van der, Dauwerse, H.G., Giles, R.H., Jagmohan-Changur, S, Wijmenga, C., Liu, P.P., Smit, B., Wessels, H.W., Beverstock, G.C., Jotterand-Bellomo, M., Martinet, D., Muhlematter, D., Lafage-Pochitaloff, M., Gabert, J., Reiffers, J., Bilhou-Nabera, C, Ommen, G.J.B. van, Hagemeijer, A., Breuning, M.H., Reijden, B.A. van der, Dauwerse, H.G., Giles, R.H., Jagmohan-Changur, S, Wijmenga, C., Liu, P.P., Smit, B., Wessels, H.W., Beverstock, G.C., Jotterand-Bellomo, M., Martinet, D., Muhlematter, D., Lafage-Pochitaloff, M., Gabert, J., Reiffers, J., Bilhou-Nabera, C, Ommen, G.J.B. van, Hagemeijer, A., and Breuning, M.H.

Abstract

Item does not contain fulltext, The inv(16) and related t(16;16) are found in 10% of all cases with de novo acute myeloid leukemia. In these rearrangements the core binding factor beta (CBFB) gene on 16q22 is fused to the smooth muscle myosin heavy chain gene (MYH11) on 16p13. To gain insight into the mechanisms causing the inv(16) we have analysed 24 genomic CBFB-MYH11 breakpoints. All breakpoints in CBFB are located in a 15-Kb intron. More than 50% of the sequenced 6.2 Kb of this intron consists of human repetitive elements. Twenty-one of the 24 breakpoints in MYH11 are located in a 370-bp intron. The remaining three breakpoints in MYH11 are located more upstream. The localization of three breakpoints adjacent to a V(D)J recombinase signal sequence in MYH11 suggests a V(D)J recombinase-mediated rearrangement in these cases. V(D)J recombinase-associated characteristics (small nucleotide deletions and insertions of random nucleotides) were detected in six other cases. CBFB and MYH11 duplications were detected in four of six cases tested.

Published
1999

47. HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32)

Author

Su, X.-Y., primary, Della-Valle, V., additional, Andre-Schmutz, I., additional, Lemercier, C., additional, Radford-Weiss, I., additional, Ballerini, P., additional, Lessard, M., additional, Lafage-Pochitaloff, M., additional, Mugneret, F., additional, Berger, R., additional, Romana, S. P., additional, Bernard, O. A., additional, and Penard-Lacronique, V., additional

Published
2006
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48. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

Author

Cauwelier, B, primary, Cavé, H, additional, Gervais, C, additional, Lessard, M, additional, Barin, C, additional, Perot, C, additional, Van den Akker, J, additional, Mugneret, F, additional, Charrin, C, additional, Pagès, M P, additional, Grégoire, M-J, additional, Jonveaux, P, additional, Lafage-Pochitaloff, M, additional, Mozzicconacci, M J, additional, Terré, C, additional, Luquet, I, additional, Cornillet-Lefebvre, P, additional, Laurence, B, additional, Plessis, G, additional, Lefebvre, C, additional, Leroux, D, additional, Antoine-Poirel, H, additional, Graux, C, additional, Mauvieux, L, additional, Heimann, P, additional, Chalas, C, additional, Clappier, E, additional, Verhasselt, B, additional, Benoit, Y, additional, Moerloose, B D, additional, Poppe, B, additional, Van Roy, N, additional, Keersmaecker, K D, additional, Cools, J, additional, Sigaux, F, additional, Soulier, J, additional, Hagemeijer, A, additional, Paepe, A D, additional, Dastugue, N, additional, Berger, R, additional, and Speleman, F, additional

Published
2006
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