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309 results on '"Lafage-Pochitaloff, Marina"'

1. Nilotinib with or without cytarabine for Philadelphia-positive acute lymphoblastic leukemia

Author

Chalandon, Yves, Rousselot, Philippe, Chevret, Sylvie, Cayuela, Jean-Michel, Kim, Rathana, Huguet, Françoise, Chevallier, Patrice, Graux, Carlos, Thiebaut-Bertrand, Anne, Chantepie, Sylvain, Thomas, Xavier, Vincent, Laure, Berthon, Céline, Hicheri, Yosr, Raffoux, Emmanuel, Escoffre-Barbe, Martine, Plantier, Isabelle, Joris, Magalie, Turlure, Pascal, Pasquier, Florence, Belhabri, Amine, Guepin, Gabrielle Roth, Blum, Sabine, Gregor, Michael, Lafage-Pochitaloff, Marina, Quessada, Julie, Lhéritier, Véronique, Clappier, Emmanuelle, Boissel, Nicolas, and Dombret, Hervé

Published
2024
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8. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Author

Lafage-Pochitaloff, Marina, Gerby, Bastien, Baccini, Véronique, Largeaud, Laetitia, Fregona, Vincent, Prade, Naïs, Juvin, Pierre-Yves, Jamrog, Laura, Bories, Pierre, Hébrard, Sylvie, Lagarde, Stéphanie, Mansat-De Mas, Véronique, Dovey, Oliver M., Yusa, Kosuke, Vassiliou, George S., Jansen, Joop H., Tekath, Tobias, Rombaut, David, Ameye, Geneviève, Barin, Carole, Bidet, Audrey, Boudjarane, John, Collonge-Rame, Marie-Agnès, Gervais, Carine, Ittel, Antoine, Lefebvre, Christine, Luquet, Isabelle, Michaux, Lucienne, Nadal, Nathalie, Poirel, Hélène A., Radford-Weiss, Isabelle, Ribourtout, Bénédicte, Richebourg, Steven, Struski, Stéphanie, Terré, Christine, Tigaud, Isabelle, Penther, Dominique, Eclache, Virginie, Fontenay, Michaela, Broccardo, Cyril, and Delabesse, Eric

Published
2022
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11. Impact of cytogenetic abnormalities in adults with Ph-negative B-cell precursor acute lymphoblastic leukemia

Author

Lafage-Pochitaloff, Marina, Baranger, Laurence, Hunault, Mathilde, Cuccuini, Wendy, Lefebvre, Christine, Bidet, Audrey, Tigaud, Isabelle, Eclache, Virginie, Delabesse, Eric, Bilhou-Nabéra, Chrystèle, Terré, Christine, Chapiro, Elise, Gachard, Nathalie, Mozziconacci, Marie-Joelle, Ameye, Geneviève, Porter, Sarah, Grardel, Nathalie, Béné, Marie C., Chalandon, Yves, Graux, Carlos, Huguet, Françoise, Lhéritier, Véronique, Ifrah, Norbert, Dombret, Hervé, and on behalf of the Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL)

Published
2017
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12. Dasatinib and low-intensity chemotherapy in elderly patients with Philadelphia chromosome–positive ALL

Author

Rousselot, Philippe, Coudé, Marie Magdelaine, Gokbuget, Nicola, Gambacorti Passerini, Carlo, Hayette, Sandrine, Cayuela, Jean-Michel, Huguet, Françoise, Leguay, Thibaut, Chevallier, Patrice, Salanoubat, Celia, Bonmati, Caroline, Alexis, Magda, Hunault, Mathilde, Glaisner, Sylvie, Agape, Philippe, Berthou, Christian, Jourdan, Eric, Fernandes, José, Sutton, Laurent, Banos, Anne, Reman, Oumedaly, Lioure, Bruno, Thomas, Xavier, Ifrah, Norbert, Lafage-Pochitaloff, Marina, Bornand, Anne, Morisset, Laure, Robin, Valérie, Pfeifer, Heike, Delannoy, Andre, Ribera, Josep, Bassan, Renato, Delord, Marc, Hoelzer, Dieter, Dombret, Herve, and Ottmann, Oliver G.

Published
2016
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13. Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Author

UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'hématologie, Kim, Rathana, Bergugnat, Hugo, Larcher, Lise, Duchmann, Matthieu, Passet, Marie, Gachet, Stéphanie, Cuccuini, Wendy, Lafage-Pochitaloff, Marina, Pastoret, Cédric, Grardel, Nathalie, Asnafi, Vahid, Schäfer, Beat W, Delabesse, Eric, Itzykson, Raphaël, Adès, Lionel, Hicheri, Yosr, Chalandon, Yves, Graux, Carlos, Chevallier, Patrice, Hunault, Mathilde, Leguay, Thibaut, Huguet, Françoise, Lhéritier, Véronique, Dombret, Hervé, Soulier, Jean, Rousselot, Philippe, Boissel, Nicolas, Clappier, Emmanuelle, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'hématologie, Kim, Rathana, Bergugnat, Hugo, Larcher, Lise, Duchmann, Matthieu, Passet, Marie, Gachet, Stéphanie, Cuccuini, Wendy, Lafage-Pochitaloff, Marina, Pastoret, Cédric, Grardel, Nathalie, Asnafi, Vahid, Schäfer, Beat W, Delabesse, Eric, Itzykson, Raphaël, Adès, Lionel, Hicheri, Yosr, Chalandon, Yves, Graux, Carlos, Chevallier, Patrice, Hunault, Mathilde, Leguay, Thibaut, Huguet, Françoise, Lhéritier, Véronique, Dombret, Hervé, Soulier, Jean, Rousselot, Philippe, Boissel, Nicolas, and Clappier, Emmanuelle

Abstract

Low hypodiploidy defines a rare subtype of B-cell acute lymphoblastic leukemia (B-ALL) with a dismal outcome. To investigate the genomic basis of low-hypodiploid ALL (LH-ALL) in adults, we analyzed copy-number aberrations, loss of heterozygosity, mutations, and cytogenetics data in a prospective cohort of Philadelphia (Ph)-negative B-ALL patients (n = 591, ages 18-84 years), allowing us to identify 80 LH-ALL cases (14%). Genomic analysis was critical for evidencing low hypodiploidy in many cases missed by cytogenetics. The proportion of LH-ALL within Ph-negative B-ALL dramatically increased with age, from 3% in the youngest patients (under 40 years old) to 32% in the oldest (over 55 years old). Somatic TP53 biallelic inactivation was the hallmark of adult LH-ALL, present in virtually all cases (98%). Strikingly, we detected TP53 mutations in posttreatment remission samples in 34% of patients. Single-cell proteogenomics of diagnosis and remission bone marrow samples evidenced a preleukemic, multilineage, TP53-mutant clone, reminiscent of age-related clonal hematopoiesis. We show that low-hypodiploid ALL is a frequent entity within B-ALL in older adults, relying on somatic TP53 biallelic alteration. Our study unveils a link between aging and low-hypodiploid ALL, with TP53-mutant clonal hematopoiesis representing a preleukemic reservoir that can give rise to aneuploidy and B-ALL. See related commentary by Saiki and Ogawa, p. 102. This article is highlighted in the In This Issue feature, p. 101.

Published
2023

14. Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis

Author

Kim, Rathana; https://orcid.org/0000-0002-9987-7237, Bergugnat, Hugo; https://orcid.org/0000-0002-8362-7460, Larcher, Lise; https://orcid.org/0000-0002-9461-0728, Duchmann, Matthieu; https://orcid.org/0000-0002-7299-4572, Passet, Marie; https://orcid.org/0000-0003-4620-8782, Gachet, Stéphanie; https://orcid.org/0000-0003-0491-9949, Cuccuini, Wendy; https://orcid.org/0000-0003-2813-5372, Lafage-Pochitaloff, Marina; https://orcid.org/0000-0002-7171-5930, Pastoret, Cédric; https://orcid.org/0000-0002-5675-3154, Grardel, Nathalie; https://orcid.org/0000-0001-6573-1312, Asnafi, Vahid; https://orcid.org/0000-0002-6255-5314, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, Delabesse, Eric; https://orcid.org/0000-0002-0928-0753, Itzykson, Raphaël; https://orcid.org/0000-0003-2139-6262, Adès, Lionel; https://orcid.org/0000-0002-9020-8766, Hicheri, Yosr; https://orcid.org/0000-0002-4508-9921, Chalandon, Yves; https://orcid.org/0000-0001-9341-8104, Graux, Carlos; https://orcid.org/0000-0001-9236-3623, Chevallier, Patrice; https://orcid.org/0000-0003-3142-5581, Hunault, Mathilde; https://orcid.org/0000-0001-7777-5216, Leguay, Thibaut; https://orcid.org/0000-0002-3123-4948, Huguet, Françoise; https://orcid.org/0000-0002-9576-8578, Lhéritier, Véronique; https://orcid.org/0000-0001-6901-9234, Dombret, Hervé; https://orcid.org/0000-0002-5454-6768, Soulier, Jean; https://orcid.org/0000-0002-8734-5356, Rousselot, Philippe; https://orcid.org/0000-0003-3238-4494, Boissel, Nicolas; https://orcid.org/0000-0003-2091-7927, Clappier, Emmanuelle; https://orcid.org/0000-0001-7098-092X, Kim, Rathana; https://orcid.org/0000-0002-9987-7237, Bergugnat, Hugo; https://orcid.org/0000-0002-8362-7460, Larcher, Lise; https://orcid.org/0000-0002-9461-0728, Duchmann, Matthieu; https://orcid.org/0000-0002-7299-4572, Passet, Marie; https://orcid.org/0000-0003-4620-8782, Gachet, Stéphanie; https://orcid.org/0000-0003-0491-9949, Cuccuini, Wendy; https://orcid.org/0000-0003-2813-5372, Lafage-Pochitaloff, Marina; https://orcid.org/0000-0002-7171-5930, Pastoret, Cédric; https://orcid.org/0000-0002-5675-3154, Grardel, Nathalie; https://orcid.org/0000-0001-6573-1312, Asnafi, Vahid; https://orcid.org/0000-0002-6255-5314, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, Delabesse, Eric; https://orcid.org/0000-0002-0928-0753, Itzykson, Raphaël; https://orcid.org/0000-0003-2139-6262, Adès, Lionel; https://orcid.org/0000-0002-9020-8766, Hicheri, Yosr; https://orcid.org/0000-0002-4508-9921, Chalandon, Yves; https://orcid.org/0000-0001-9341-8104, Graux, Carlos; https://orcid.org/0000-0001-9236-3623, Chevallier, Patrice; https://orcid.org/0000-0003-3142-5581, Hunault, Mathilde; https://orcid.org/0000-0001-7777-5216, Leguay, Thibaut; https://orcid.org/0000-0002-3123-4948, Huguet, Françoise; https://orcid.org/0000-0002-9576-8578, Lhéritier, Véronique; https://orcid.org/0000-0001-6901-9234, Dombret, Hervé; https://orcid.org/0000-0002-5454-6768, Soulier, Jean; https://orcid.org/0000-0002-8734-5356, Rousselot, Philippe; https://orcid.org/0000-0003-3238-4494, Boissel, Nicolas; https://orcid.org/0000-0003-2091-7927, and Clappier, Emmanuelle; https://orcid.org/0000-0001-7098-092X

Abstract

UNLABELLED Low hypodiploidy defines a rare subtype of B-cell acute lymphoblastic leukemia (B-ALL) with a dismal outcome. To investigate the genomic basis of low-hypodiploid ALL (LH-ALL) in adults, we analyzed copy-number aberrations, loss of heterozygosity, mutations, and cytogenetics data in a prospective cohort of Philadelphia (Ph)-negative B-ALL patients (n = 591, ages 18-84 years), allowing us to identify 80 LH-ALL cases (14%). Genomic analysis was critical for evidencing low hypodiploidy in many cases missed by cytogenetics. The proportion of LH-ALL within Ph-negative B-ALL dramatically increased with age, from 3% in the youngest patients (under 40 years old) to 32% in the oldest (over 55 years old). Somatic TP53 biallelic inactivation was the hallmark of adult LH-ALL, present in virtually all cases (98%). Strikingly, we detected TP53 mutations in posttreatment remission samples in 34% of patients. Single-cell proteogenomics of diagnosis and remission bone marrow samples evidenced a preleukemic, multilineage, TP53-mutant clone, reminiscent of age-related clonal hematopoiesis. SIGNIFICANCE We show that low-hypodiploid ALL is a frequent entity within B-ALL in older adults, relying on somatic TP53 biallelic alteration. Our study unveils a link between aging and low-hypodiploid ALL, with TP53-mutant clonal hematopoiesis representing a preleukemic reservoir that can give rise to aneuploidy and B-ALL. See related commentary by Saiki and Ogawa, p. 102. This article is highlighted in the In This Issue feature, p. 101.

Published
2023

15. Supplementary Figures S1-S10 from Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis

Author

Kim, Rathana, primary, Bergugnat, Hugo, primary, Larcher, Lise, primary, Duchmann, Matthieu, primary, Passet, Marie, primary, Gachet, Stéphanie, primary, Cuccuini, Wendy, primary, Lafage-Pochitaloff, Marina, primary, Pastoret, Cédric, primary, Grardel, Nathalie, primary, Asnafi, Vahid, primary, Schäfer, Beat W., primary, Delabesse, Eric, primary, Itzykson, Raphaël, primary, Adès, Lionel, primary, Hicheri, Yosr, primary, Chalandon, Yves, primary, Graux, Carlos, primary, Chevallier, Patrice, primary, Hunault, Mathilde, primary, Leguay, Thibaut, primary, Huguet, Françoise, primary, Lhéritier, Véronique, primary, Dombret, Hervé, primary, Soulier, Jean, primary, Rousselot, Philippe, primary, Boissel, Nicolas, primary, and Clappier, Emmanuelle, primary

Published
2023
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16. Supplementary Tables S1-S11 from Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis

Author

Kim, Rathana, primary, Bergugnat, Hugo, primary, Larcher, Lise, primary, Duchmann, Matthieu, primary, Passet, Marie, primary, Gachet, Stéphanie, primary, Cuccuini, Wendy, primary, Lafage-Pochitaloff, Marina, primary, Pastoret, Cédric, primary, Grardel, Nathalie, primary, Asnafi, Vahid, primary, Schäfer, Beat W., primary, Delabesse, Eric, primary, Itzykson, Raphaël, primary, Adès, Lionel, primary, Hicheri, Yosr, primary, Chalandon, Yves, primary, Graux, Carlos, primary, Chevallier, Patrice, primary, Hunault, Mathilde, primary, Leguay, Thibaut, primary, Huguet, Françoise, primary, Lhéritier, Véronique, primary, Dombret, Hervé, primary, Soulier, Jean, primary, Rousselot, Philippe, primary, Boissel, Nicolas, primary, and Clappier, Emmanuelle, primary

Published
2023
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17. Data from Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis

Author

Kim, Rathana, primary, Bergugnat, Hugo, primary, Larcher, Lise, primary, Duchmann, Matthieu, primary, Passet, Marie, primary, Gachet, Stéphanie, primary, Cuccuini, Wendy, primary, Lafage-Pochitaloff, Marina, primary, Pastoret, Cédric, primary, Grardel, Nathalie, primary, Asnafi, Vahid, primary, Schäfer, Beat W., primary, Delabesse, Eric, primary, Itzykson, Raphaël, primary, Adès, Lionel, primary, Hicheri, Yosr, primary, Chalandon, Yves, primary, Graux, Carlos, primary, Chevallier, Patrice, primary, Hunault, Mathilde, primary, Leguay, Thibaut, primary, Huguet, Françoise, primary, Lhéritier, Véronique, primary, Dombret, Hervé, primary, Soulier, Jean, primary, Rousselot, Philippe, primary, Boissel, Nicolas, primary, and Clappier, Emmanuelle, primary

Published
2023
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18. Randomized study of reduced-intensity chemotherapy combined with imatinib in adults with Ph-positive acute lymphoblastic leukemia

Author

Chalandon, Yves, Thomas, Xavier, Hayette, Sandrine, Cayuela, Jean-Michel, Abbal, Claire, Huguet, Françoise, Raffoux, Emmanuel, Leguay, Thibaut, Rousselot, Philippe, Lepretre, Stéphane, Escoffre-Barbe, Martine, Maury, Sébastien, Berthon, Céline, Tavernier, Emmanuelle, Lambert, Jean-François, Lafage-Pochitaloff, Marina, Lhéritier, Véronique, Chevret, Sylvie, Ifrah, Norbert, and Dombret, Hervé

Published
2015
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19. Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from PreleukemicTP53-Mutant Clonal Hematopoiesis

Author

Kim, Rathana, primary, Bergugnat, Hugo, additional, Larcher, Lise, additional, Duchmann, Matthieu, additional, Passet, Marie, additional, Gachet, Stéphanie, additional, Cuccuini, Wendy, additional, Lafage-Pochitaloff, Marina, additional, Pastoret, Cédric, additional, Grardel, Nathalie, additional, Asnafi, Vahid, additional, Schäfer, Beat W., additional, Delabesse, Eric, additional, Itzykson, Raphaël, additional, Adès, Lionel, additional, Hicheri, Yosr, additional, Chalandon, Yves, additional, Graux, Carlos, additional, Chevallier, Patrice, additional, Hunault, Mathilde, additional, Leguay, Thibaut, additional, Huguet, Françoise, additional, Lhéritier, Véronique, additional, Dombret, Hervé, additional, Soulier, Jean, additional, Rousselot, Philippe, additional, Boissel, Nicolas, additional, and Clappier, Emmanuelle, additional

Published
2023
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21. Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogénétique Hématologique study

Author

Coyaud, Etienne, Struski, Stephanie, Prade, Nais, Familiades, Julien, Eichner, Ruth, Quelen, Cathy, Bousquet, Marina, Mugneret, Francine, Talmant, Pascaline, Pages, Marie-Pierre, Lefebvre, Christine, Penther, Dominique, Lippert, Eric, Nadal, Nathalie, Taviaux, Sylvie, Poppe, Bruce, Luquet, Isabelle, Baranger, Laurence, Eclache, Virginie, Radford, Isabelle, Barin, Carole, Mozziconacci, Marie-Joëlle, Lafage-Pochitaloff, Marina, Antoine-Poirel, Hélène, Charrin, Christiane, Perot, Christine, Terre, Christine, Brousset, Pierre, Dastugue, Nicole, and Broccardo, Cyril

Published
2010
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22. A Phase 2 study of L-asparaginase encapsulated in erythrocytes in elderly patients with Philadelphia chromosome negative acute lymphoblastic leukemia: The GRASPALL/GRAALL-SA2-2008 study

Author

Hunault-Berger, Mathilde, Leguay, Thibaut, Huguet, Françoise, Leprêtre, Stéphane, Deconinck, Eric, Ojeda-Uribe, Mario, Bonmati, Caroline, Escoffre-Barbe, Martine, Bories, Pierre, Himberlin, Chantal, Chevallier, Patrice, Rousselot, Philippe, Reman, Oumedaly, Boulland, Marie-Laure, Lissandre, Severine, Turlure, Pascal, Bouscary, Didier, Sanhes, Laurence, Legrand, Ollivier, Lafage-Pochitaloff, Marina, Béné, Marie C, Liens, David, Godfrin, Yann, Ifrah, Norbert, and Dombret, Hervé

Published
2015
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24. Characterization of the novel Sezary lymphoma cell line BKP1

Author

Boudjarane, John, Essaydi, Arnaud, Farnault, Laure, Popovici, Cornel, Lafage-Pochitaloff, Marina, Beaufils, Nathalie, Berda-Haddad, Yaël, Lacroix, Romaric, Nicolino-Brunet, Corinne, Le Treut, Thérèse, Zattara, Hélène, Gabert, Jean, Kahn-Perlès, Brigitte, and Costello, Régis

Published
2015
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25. Clinical and biological features of B‐cell neoplasms with CDK6 translocations: an association with a subgroup of splenic marginal zone lymphomas displaying frequent CD5 expression, prolymphocytic cells, and TP53 abnormalities

Author

Gailllard, Baptiste, Cornillet‐Lefebvre, Pascale, Le, Quoc‐Hung, Maloum, Karim, Pannetier, Mélanie, Lecoq‐Lafon, Carinne, Grange, Béatrice, Jondreville, Ludovic, Michaux, Lucienne, Nadal, Nathalie, Ittel, Antoine, Luquet, Isabelle, Struski, Stéphanie, Lefebvre, Christine, Gaillard, Jean‐Baptiste, Lafage‐Pochitaloff, Marina, Balducci, Estelle, Penther, Dominique, Barin, Carole, Collonge‐Rame, Marie Agnès, Jimenez‐Poquet, Mélanie, Richebourg, Steven, Defasque, Sabine, Radford‐Weiss, Isabelle, Bidet, Audrey, Susin, Santos, Nguyen‐Khac, Florence, Chapiro, Elise, Lemaire, Pierre, Hôpital universitaire Robert Debré [Reims], Service d'Hématologie Biologique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pontchaillou [Rennes], Hospices Civils de Lyon (HCL), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), University Hospitals Leuven [Leuven], CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Strasbourg, Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Grenoble] (CHU), Unité de Génétique Chromosomique [Montpellier], Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée [Montpellier], Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Paul Brousse, Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Laborizon Abo+, Faculté de médecine de l'Université Laval [Québec] (ULaval), Université Laval [Québec] (ULaval), Laboratoire CERBA [Saint Ouen l'Aumône], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Institut de Recherche Saint-Louis - Hématologie Immunologie Oncologie (Département de recherche de l’UFR de médecine, ex- Institut Universitaire Hématologie-IUH) (IRSL), Université Paris Cité (UPCité), Gestionnaire, HAL Sorbonne Université 5, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université de Paris (UP)

Subjects
Adult, Male, [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, CDK6, Trisomy, CD5 Antigens, Translocation, Genetic, prolymphocytic cell, Humans, TP53, In Situ Hybridization, Fluorescence, Aged, Aged, 80 and over, Chromosome Aberrations, Splenic Neoplasms, Bronchial Neoplasms, Cell Differentiation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Cyclin-Dependent Kinase 6, Lymphoma, B-Cell, Marginal Zone, Middle Aged, Genes, p53, Leukemia, Lymphocytic, Chronic, B-Cell, Survival Analysis, marginal zone lymphoma, CD5, Phenotype, Tertiary Lymphoid Structures, Mutation, Female, Tumor Suppressor Protein p53, Immunoglobulin Heavy Chains
Abstract

International audience; A translocation involving the cyclin‐dependent kinase 6 (CDK6) gene [t(CDK6)] is a rare but recurrent abnormality in B‐cell neoplasms. To further characterise this aberration, we studied 57 cases; the largest series reported to date. Fluorescence in situ hybridisation analysis confirmed the involvement of CDK6 in all cases, including t(2;7)(p11;q21) immunoglobulin kappa locus (IGK)/CDK6 (n = 51), t(7;14)(q21;q32) CDK6/immunoglobulin heavy locus (IGH) (n = 2) and the previously undescribed t(7;14)(q21;q11) CDK6/T‐cell receptor alpha locus (TRA)/T‐cell receptor delta locus (TRD) (n = 4). In total, 10 patients were diagnosed with chronic lymphocytic leukaemia, monoclonal B‐cell lymphocytosis or small lymphocytic lymphoma, and 47 had small B‐cell lymphoma (SmBL) including 36 cases of marginal zone lymphoma (MZL; 34 splenic MZLs, one nodal MZL and one bronchus‐associated lymphoid tissue lymphoma). In all, 18 of the 26 cytologically reviewed cases of MZL (69%) had an atypical aspect with prolymphocytic cells. Among the 47 patients with MZL/SmBL, CD5 expression was found in 26 (55%) and the tumour protein p53 (TP53) deletion in 22 (47%). The TP53 gene was mutated in 10/30 (33%); the 7q deletion was detected in only one case, and no Notch receptor 2 (NOTCH2) mutations were found. Immunoglobulin heavy‐chain variable‐region (IGHV) locus sequencing revealed that none harboured an IGHV1‐02*04 gene. Overall survival was 82% at 10 years and not influenced by TP53 aberration. Our present findings suggest that most t(CDK6)+ neoplasms correspond to a particular subgroup of indolent marginal zone B‐cell lymphomas with distinctive features.

Published
2020
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26. Outcomes for Children with High Risk Acute Myeloid Leukemia on the Myechild 01 International Phase III Clinical Trial

Author

Moore, Andrew, Maycock, Shanna, Leverger, Guy, Smith, Owen, Baruchel, Andre, Bertrand, Yves, Ancliff, Phil, Heaney, Nicholas, Shenton, Geoff, Petit, Arnaud, Bourquin, Jean-Pierre, Jackson, Aimee, Lawson, Anna, Amrolia, Persis, Michel, Gerard, Dalle, Jean-Hugues, Ansari, Marc, Lapillonne, Hélène, Dillon, Richard, Jovanovic, Jelena, Roumier, Christophe, Duployez, Nicolas, Harrison, Christine, Schwab, Claire, Cuccuini, Wendy, Lafage-Pochitaloff, Marina, Vyas, Paresh, Hirsch, Pierre, Veal, Gareth, Kearns, Pam, and Gibson, Brenda

Published
2023
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28. Identification of new classes among acute myelogenous leukaemias with normal karyotype using gene expression profiling

Author

Vey, Norbert, Mozziconacci, Marie-Joëlle, Groulet-Martinec, Agnès, Debono, Stéphane, Finetti, Pascal, Carbuccia, Nadine, Beillard, Emmanuel, Devilard, Elizabeth, Arnoulet, Christine, Coso, Diane, Sainty, Danielle, Xerri, Luc, Stoppa, Anne-Marie, Lafage-Pochitaloff, Marina, Nguyen, Catherine, Houlgatte, Rémi, Blaise, Didier, Maraninchi, Dominique, Birg, Françoise, Birnbaum, Daniel, and Bertucci, François

Published
2004
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29. DNA topoisomerase II in therapy-related acute promyelocytic leukemia

Author

Mistry, Anita R., Mason, Annabel, Whitmarsh, Ryan J., Felix, Carolyn A., Reiter, Andreas, Walz, Christoph, Parry, Anne, Cassinat, Bruno, Wiemels, Joseph L., Blair, Ian A., Ades, Lionel, Segal, Mark R., Osheroff, Neil, Cross, Nicholas C.P., Lafage-Pochitaloff, Marina, Peniket, Andrew J., Chomienne, Christine, Grimwade, David, Fenaux, Pierre, and Solomon, Ellen

Subjects
Breast cancer -- Care and treatment, DNA topoisomerase I -- Research
Abstract

Acute promyelocytic leukemia (APL) with the t(15;17) translocation that developed after treatment of breast or larnygeal cancer with chemotherapeutic agents that poison topoisomerase II is studied. Drug-induced cleavage of DNA by topoisomerase II mediates the formation of chromosomal translocation breakpoints in mitoxantrone-related APL and in APL that occurs after therapy with other topoisomerase II poisons.

Published
2005

30. Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique

Author

Jeandidier, Eric, Dastugue, Nicole, Mugneret, Francine, Lafage-Pochitaloff, Marina, Mozziconacci, Marie-Joëlle, Herens, Christian, Michaux, Lucienne, Verellen-Dumoulin, Christine, Talmant, Pascaline, Cornillet-Lefebvre, Pascale, Luquet, Isabelle, Charrin, Christiane, Barin, Carole, Collonge-Rame, Marie-Agnès, Pérot, Christine, Van den Akker, Jacqueline, Grégoire, Marie-José, Jonveaux, P., Baranger, Laurence, Eclache-Saudreau, Virginie, Pagès, Marie-Pierre, Cabrol, Christine, Terré, Christine, and Berger, Roland

Published
2006
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31. Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

Author

van der Reijden, Bert A, Dauwerse, Hans G, Giles, Rachel H, Jagmohan-Changur, Shantie, Wijmenga, Cisca, Liu, P Paul, Smit, Bep, Wessels, Hans W, Beverstock, Geoff C, Jotterand-Bellomo, Martine, Martinet, Danielle, Mühlematter, Dominique, Lafage-Pochitaloff, Marina, Gabert, Jean, Reiffers, Josy, Bilhou-Nabera, Chrystèle, Ommen, Gert-Jan B van, Hagemeijer, Anne, and Breuning, Martijn H

Published
1999
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33. PAX5 P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome

Author

Passet, Marie, Boissel, Nicolas, Sigaux, François, Saillard, Colombe, Bargetzi, Mario, Ba, Ibrahima, Thomas, Xavier, Graux, Carlos, Chalandon, Yves, Leguay, Thibaut, Lengliné, Etienne, Konopacki, Johanna, Quentin, Samuel, Delabesse, Eric, Lafage-Pochitaloff, Marina, Pastoret, Cédric, Grardel, Nathalie, Asnafi, Vahid, Lhéritier, Véronique, Soulier, Jean, Dombret, Hervé, and Clappier, Emmanuelle

Published
2019
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34. MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene

Author

Storlazzi, Clelia Tiziana, Fioretos, Thoas, Surace, Cecilia, Lonoce, Angelo, Mastrorilli, Angela, Strömbeck, Bodil, DʼAddabbo, Pietro, Iacovelli, Francesco, Minervini, Crescenzio, Aventin, Anna, Dastugue, Nicole, Fonatsch, Christa, Hagemeijer, Anne, Jotterand, Martine, Mühlematter, Dominique, Lafage-Pochitaloff, Marina, Nguyen-Khac, Florence, Schoch, Claudia, Slovak, Marilyn L., Smith, Arabella, Solè, Francesc, Van Roy, Nadine, Johansson, Bertil, and Rocchi, Mariano

Published
2006

39. B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL

Author

Fournier, Benjamin, primary, Balducci, Estelle, additional, Duployez, Nicolas, additional, Clappier, Emmanuelle, additional, Cuccuini, Wendy, additional, Arfeuille, Chloé, additional, Caye-Eude, Aurélie, additional, Delabesse, Eric, additional, Bottollier-Lemallaz Colomb, Elodie, additional, Nebral, Karin, additional, Chrétien, Marie-Lorraine, additional, Derrieux, Coralie, additional, Cabannes-Hamy, Aurélie, additional, Dumezy, Florent, additional, Etancelin, Pascaline, additional, Fenneteau, Odile, additional, Frayfer, Jamile, additional, Gourmel, Antoine, additional, Loosveld, Marie, additional, Michel, Gérard, additional, Nadal, Nathalie, additional, Penther, Dominique, additional, Tigaud, Isabelle, additional, Fournier, Elise, additional, Reismüller, Bettina, additional, Attarbaschi, Andishe, additional, Lafage-Pochitaloff, Marina, additional, and Baruchel, André, additional

Published
2019
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41. Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH)

Author

Dastugue, Nicole, Lafage-Pochitaloff, Marina, Pagès, Marie-Pierre, Radford, Isabelle, Bastard, Christian, Talmant, Pascaline, Mozziconacci, Marie Joelle, Léonard, Claude, Bilhou-Nabéra, Christelle, Cabrol, Christine, Capodano, Anne-Marie, Cornillet-Lefebvre, Pascale, Lessard, Michel, Mugneret, Francine, Pérot, Christine, Taviaux, Sylvie, Fenneteaux, Odile, Duchayne, Eliane, and Berger, Roland

Published
2002
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42. CD4+, CD56+ DC2 acute leukemia is characterized by recurrent clonal chromosomal changes affecting 6 major targets: a study of 21 cases by the Groupe Français de Cytogénétique Hématologique

Author

Leroux, Dominique, Mugneret, Francine, Callanan, Mary, Radford-Weiss, Isabelle, Dastugue, Nicole, Feuillard, Jean, Le Mée, Franseza, Plessis, Ghislaine, Talmant, Pascaline, Gachard, Nathalie, Uettwiller, Françoise, Pages, Marie-Pierre, Mozziconacci, Marie-Joëlle, Eclache, Virginie, Sibille, Catherine, Avet-Loiseau, Hervé, and Lafage-Pochitaloff, Marina

Published
2002
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47. The CADM1tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Author

Lafage-Pochitaloff, Marina, Gerby, Bastien, Baccini, Véronique, Largeaud, Laetitia, Fregona, Vincent, Prade, Naïs, Juvin, Pierre-Yves, Jamrog, Laura, Bories, Pierre, Hébrard, Sylvie, Lagarde, Stéphanie, Mansat-De Mas, Véronique, Dovey, Oliver M., Yusa, Kosuke, Vassiliou, George S., Jansen, Joop H., Tekath, Tobias, Rombaut, David, Ameye, Geneviève, Barin, Carole, Bidet, Audrey, Boudjarane, John, Collonge-Rame, Marie-Agnès, Gervais, Carine, Ittel, Antoine, Lefebvre, Christine, Luquet, Isabelle, Michaux, Lucienne, Nadal, Nathalie, Poirel, Hélène A., Radford-Weiss, Isabelle, Ribourtout, Bénédicte, Richebourg, Steven, Struski, Stéphanie, Terré, Christine, Tigaud, Isabelle, Penther, Dominique, Eclache, Virginie, Fontenay, Michaela, Broccardo, Cyril, and Delabesse, Eric

Abstract

Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis leading to peripheral cytopenias and in a substantial proportion of cases to acute myeloid leukemia. The deletion of the long arm of chromosome 11, del(11q), is a rare but recurrent clonal event in MDS. Here, we detail the largest series of 113 cases of MDS and myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) harboring a del(11q) analyzed at clinical, cytological, cytogenetic, and molecular levels. Female predominance, a survival prognosis similar to other MDS, a low monocyte count, and dysmegakaryopoiesis were the specific clinical and cytological features of del(11q) MDS. In most cases, del(11q) was isolated, primary and interstitial encompassing the 11q22-23 region containing ATM, KMT2A, and CBLgenes. The common deleted region at 11q23.2 is centered on an intergenic region between CADM1(also known as Tumor Suppressor in Lung Cancer 1) and NXPE2. CADM1was expressed in all myeloid cells analyzed in contrast to NXPE2. At the functional level, the deletion of Cadm1 in murine Lineage-Sca1+Kit+cells modifies the lymphoid-to-myeloid ratio in bone marrow, although not altering their multilineage hematopoietic reconstitution potential after syngenic transplantation. Together with the frequent simultaneous deletions of KMT2A, ATM, and CBLand mutations of ASXL1, SF3B1, and CBL, we show that CADM1may be important in the physiopathology of the del(11q) MDS, extending its role as tumor-suppressor gene from solid tumors to hematopoietic malignancies.

Published
2022
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49. Clinical and biological features of B‐cell neoplasms with CDK6 translocations: an association with a subgroup of splenic marginal zone lymphomas displaying frequent CD5 expression, prolymphocytic cells, and TP53 abnormalities.

Author

Gailllard, Baptiste, Cornillet‐Lefebvre, Pascale, Le, Quoc‐Hung, Maloum, Karim, Pannetier, Mélanie, Lecoq‐Lafon, Carinne, Grange, Béatrice, Jondreville, Ludovic, Michaux, Lucienne, Nadal, Nathalie, Ittel, Antoine, Luquet, Isabelle, Struski, Stéphanie, Lefebvre, Christine, Gaillard, Jean‐Baptiste, Lafage‐Pochitaloff, Marina, Balducci, Estelle, Penther, Dominique, Barin, Carole, and Collonge‐Rame, Marie Agnès

Subjects
MUCOSA-associated lymphoid tissue lymphoma, TUMORS, P53 protein, LYMPHOMAS, LYMPHOCYTIC leukemia, CHRONIC leukemia
Abstract

Summary: A translocation involving the cyclin‐dependent kinase 6 (CDK6) gene [t(CDK6)] is a rare but recurrent abnormality in B‐cell neoplasms. To further characterise this aberration, we studied 57 cases; the largest series reported to date. Fluorescence in situ hybridisation analysis confirmed the involvement of CDK6 in all cases, including t(2;7)(p11;q21) immunoglobulin kappa locus (IGK)/CDK6 (n = 51), t(7;14)(q21;q32) CDK6/immunoglobulin heavy locus (IGH) (n = 2) and the previously undescribed t(7;14)(q21;q11) CDK6/T‐cell receptor alpha locus (TRA)/T‐cell receptor delta locus (TRD) (n = 4). In total, 10 patients were diagnosed with chronic lymphocytic leukaemia, monoclonal B‐cell lymphocytosis or small lymphocytic lymphoma, and 47 had small B‐cell lymphoma (SmBL) including 36 cases of marginal zone lymphoma (MZL; 34 splenic MZLs, one nodal MZL and one bronchus‐associated lymphoid tissue lymphoma). In all, 18 of the 26 cytologically reviewed cases of MZL (69%) had an atypical aspect with prolymphocytic cells. Among the 47 patients with MZL/SmBL, CD5 expression was found in 26 (55%) and the tumour protein p53 (TP53) deletion in 22 (47%). The TP53 gene was mutated in 10/30 (33%); the 7q deletion was detected in only one case, and no Notch receptor 2 (NOTCH2) mutations were found. Immunoglobulin heavy‐chain variable‐region (IGHV) locus sequencing revealed that none harboured an IGHV1‐02*04 gene. Overall survival was 82% at 10 years and not influenced by TP53 aberration. Our present findings suggest that most t(CDK6)+ neoplasms correspond to a particular subgroup of indolent marginal zone B‐cell lymphomas with distinctive features. [ABSTRACT FROM AUTHOR]

Published
2021
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50. P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome

Author

Passet, Marie, Boissel, Nicolas, Sigaux, François, Saillard, Colombe, Bargetzi, Mario, Ba, Ibrahima, Thomas, Xavier, Graux, Carlos, Chalandon, Yves, Leguay, Thibaut, Lengliné, Etienne, Konopacki, Johanna, Quentin, Samuel, Delabesse, Eric, Lafage-Pochitaloff, Marina, Pastoret, Cédric, Grardel, Nathalie, Asnafi, Vahid, Lhéritier, Véronique, Soulier, Jean, Dombret, Hervé, Clappier, Emmanuelle, UCL - SSS/IREC/MONT - Pôle Mont Godinne, and UCL - (MGD) Service d'hématologie

Published
2018

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