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1. Long-term survival of NPM1 AML treated with intensive chemotherapy with extensive molecular data available.

Author

Garciaz, Sylvain, Berton, Guillaume, Hospital, Marie-Anne, Guille, Arnaud, Adélaïde, José, Saillard, Colombe, Hicheri, Yosr, Mozziconacci, Marie-Joëlle, Duprez, Estelle, Récher, Christian, Alary, Anne-Sophie, Birnbaum, Daniel, and Vey, Norbert

Subjects
ACUTE myeloid leukemia, LEUCOCYTES
Abstract

This document is a letter to the editor published in the journal Leukemia & Lymphoma. The letter discusses the long-term survival of patients with acute myeloid leukemia (AML) who have mutations in the nucleophosmin 1 (NPM1mut) gene. The study analyzed 179 newly diagnosed NPM1mut AML patients who were treated with intensive chemotherapy and had extensive molecular data available. The results showed that the presence of certain mutations, such as FLT3ITD and DNMT3AR882, significantly impacted overall survival. The study also identified a small group of patients who lived more than 5 years after AML diagnosis, and they were found to be younger and have fewer FLT3ITD mutations. [Extracted from the article]

Published
2024
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2. 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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3. Supplementary Tables 1-7 from Comprehensive Profiling of 8p11-12 Amplification in Breast Cancer

Author

Gelsi-Boyer, Véronique, primary, Orsetti, Béatrice, primary, Cervera, Nathalie, primary, Finetti, Pascal, primary, Sircoulomb, Fabrice, primary, Rougé, Carole, primary, Lasorsa, Laurence, primary, Letessier, Anne, primary, Ginestier, Christophe, primary, Monville, Florence, primary, Esteyriès, Séverine, primary, Adélaïde, José, primary, Esterni, Benjamin, primary, Henry, Catherine, primary, Ethier, Stephen P., primary, Bibeau, Frédéric, primary, Mozziconacci, Marie-Joëlle, primary, Charafe-Jauffret, Emmanuelle, primary, Jacquemier, Jocelyne, primary, Bertucci, François, primary, Birnbaum, Daniel, primary, Theillet, Charles, primary, and Chaffanet, Max, primary

Published
2023
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4. Data from Comprehensive Profiling of 8p11-12 Amplification in Breast Cancer

Author

Gelsi-Boyer, Véronique, primary, Orsetti, Béatrice, primary, Cervera, Nathalie, primary, Finetti, Pascal, primary, Sircoulomb, Fabrice, primary, Rougé, Carole, primary, Lasorsa, Laurence, primary, Letessier, Anne, primary, Ginestier, Christophe, primary, Monville, Florence, primary, Esteyriès, Séverine, primary, Adélaïde, José, primary, Esterni, Benjamin, primary, Henry, Catherine, primary, Ethier, Stephen P., primary, Bibeau, Frédéric, primary, Mozziconacci, Marie-Joëlle, primary, Charafe-Jauffret, Emmanuelle, primary, Jacquemier, Jocelyne, primary, Bertucci, François, primary, Birnbaum, Daniel, primary, Theillet, Charles, primary, and Chaffanet, Max, primary

Published
2023
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5. Supplementary Figures 1-4 from Comprehensive Profiling of 8p11-12 Amplification in Breast Cancer

Author

Gelsi-Boyer, Véronique, primary, Orsetti, Béatrice, primary, Cervera, Nathalie, primary, Finetti, Pascal, primary, Sircoulomb, Fabrice, primary, Rougé, Carole, primary, Lasorsa, Laurence, primary, Letessier, Anne, primary, Ginestier, Christophe, primary, Monville, Florence, primary, Esteyriès, Séverine, primary, Adélaïde, José, primary, Esterni, Benjamin, primary, Henry, Catherine, primary, Ethier, Stephen P., primary, Bibeau, Frédéric, primary, Mozziconacci, Marie-Joëlle, primary, Charafe-Jauffret, Emmanuelle, primary, Jacquemier, Jocelyne, primary, Bertucci, François, primary, Birnbaum, Daniel, primary, Theillet, Charles, primary, and Chaffanet, Max, primary

Published
2023
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9. Chromosomal translocations involving the IGH@ locus in B-cell precursor acute lymphoblastic leukemia: 29 new cases and a review of the literature

Author

Chapiro, Elise, Radford-Weiss, Isabelle, Cung, Hong-Anh, Dastugue, Nicole, Nadal, Nathalie, Taviaux, Sylvie, Barin, Carole, Struski, Stephanie, Talmant, Pascaline, Vandenberghe, Peter, Mozziconacci, Marie-Joelle, Tigaud, Isabelle, Lefebvre, Christine, Penther, Dominique, Bastard, Christian, Lippert, Eric, Mugneret, Francine, Romana, Serge, Bernard, Olivier A., Harrison, Christine J., Russell, Lisa J., and Nguyen-Khac, Florence

Published
2013
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10. PICALM–MLLT10 acute myeloid leukemia: A French cohort of 18 patients

Author

Borel, Cecile, Dastugue, Nicole, Cances-Lauwers, Valérie, Mozziconacci, Marie-Joelle, Prebet, Thomas, Vey, Norbert, Pigneux, Aranud, Lippert, Eric, Visanica, Sorin, Legrand, Faezeh, Rault, Jean Philippe, Taviaux, Sylvie, Bastard, Christian, Mugneret, Francine, Collonges Rames, Marie Agnes, Gachard, Nathalie, Talmant, Pascaline, Delabesse, Eric, and Récher, Christian

Published
2012
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11. 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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14. Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course

Author

Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène A., Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, Michaux, Lucienne, and on behalf of the BCGHo and the GFCH

Published
2012
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15. Clinical, Cytogenetic and Molecular Characterization of a 96 MDS and AML Cohort with TP53 Mutation

Author

Duranjou, Marine, Castoldi, Cécile, Alary, Anne Sophie, Hicheri, Yosr, Saillard, Colombe, Rouzaud, Camille, Charbonnier, Aude, Mohty, Bilal, D'Incan, Evelyne, Rey, Jerome, Hospital, Marie Anne, Devillier, Raynier, Vey, Norbert, Gelsi-Boyer, Véronique, Lhoumeau, Anne-Catherine, Murati, Anne, Golesi, Florence, Mozziconacci, Marie Joelle, Ittel, Antoine, and Garciaz, Sylvain

Published
2023
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16. 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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17. 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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20. Gains of EPOR and ERG genes in adult erythroleukaemia

Author

Adélaïde, José, primary, Cervera, Nathalie, additional, Guille, Arnaud, additional, Murati, Anne, additional, Chaffanet, Max, additional, Mozziconacci, Marie‐Joëlle, additional, Vey, Norbert, additional, Birnbaum, Daniel, additional, and Gelsi‐Boyer, Véronique, additional

Published
2020
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24. A report from the LALA-94 and LALA-SA groups on hypodiploidy with 30 to 39 chromosomes and near-triploidy: 2 possible expressions of a sole entity conferring poor prognosis in adult acute lymphoblastic leukemia (ALL)

Author

Charrin, Christiane, Thomas, Xavier, Ffrench, Martine, Le, Quoc-Hung, Andrieux, Joris, Mozziconacci, Marie-Joelle, Laï, Jean-Luc, Bilhou-Nabera, Chrystele, Michaux, Lucienne, Bernheim, Alain, Bastard, Christian, Mossafa, Hossein, Perot, Christine, Maarek, Odile, Boucheix, Claude, Lheritier, Véronique, Delannoy, André, Fière, Denis, and Dastugue, Nicole

Published
2004
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26. M0 AML, clinical and biologic features of the disease, includingAML1 gene mutations: a report of 59 cases by the Groupe Français d'Hématologie Cellulaire (GFHC) and the Groupe Français de Cytogénétique Hématologique (GFCH)

Author

Roumier, Christophe, Eclache, Virginie, Imbert, Michelle, Davi, Frederic, MacIntyre, Elizabeth, Garand, Richard, Talmant, Pascaline, Lepelley, Pascale, Lai, Jean Luc, Casasnovas, Olivier, Maynadie, Marc, Mugneret, Francine, Bilhou-Naberra, Chrystele, Valensi, Françoise, Radford, Isabelle, Mozziconacci, Marie Joëlle, Arnoulet, Christine, Duchayne, Eliane, Dastugue, Nicole, Cornillet, Pascale, Daliphard, Sylvie, Garnache, Francine, Boudjerra, Najiba, Jouault, Helene, Fenneteau, Odile, Pedron, Béatrice, Berger, Roland, Flandrin, Georges, Fenaux, Pierre, and Preudhomme, Claude

Published
2003
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27. 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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28. 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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31. Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes

Author

Olschwang Sylviane, Bentires-Alj Mohamed, Sainty Danielle, Arnoulet Christine, Pinson Stephane, Houdayer Claude, Aceto Nicola, Remy Virginie, Adélaïde José, Trouplin Virginie, Gelsi-Boyer Véronique, Vey Norbert, Mozziconacci Marie-Joëlle, Birnbaum Daniel, and Chaffanet Max

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Chronic myelomonocytic leukemia (CMML) is a hematological disease close to, but separate from both myeloproliferative disorders (MPD) and myelodysplastic syndromes and may show either myeloproliferative (MP-CMML) or myelodysplastic (MD-CMML) features. Not much is known about the molecular biology of this disease. Methods We studied a series of 30 CMML samples (13 MP- and 11 MD-CMMLs, and 6 acutely transformed cases) from 29 patients by using Agilent high density array-comparative genomic hybridization (aCGH) and sequencing of 12 candidate genes. Results Two-thirds of samples did not show any obvious alteration of aCGH profiles. In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. NF1, RB1 and CDK6). RAS mutations were detected in 4 cases (including an uncommon codon 146 mutation in KRAS) and PTPN11 mutations in 3 cases. We detected 11 RUNX1 alterations (9 mutations and 2 rearrangements). The rearrangements were a new, cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of RUNX1 to USP16. RAS and RUNX1 alterations were not mutually exclusive. RAS pathway mutations occurred in MP-CMMLs (~46%) but not in MD-CMMLs. RUNX1 alterations (mutations and cryptic rearrangement) occurred in both MP and MD classes (~38%). Conclusion We detected RAS pathway mutations and RUNX1 alterations. The latter included a new cryptic USP16-RUNX1 fusion. In some samples, two alterations coexisted already at this early chronic stage.

Published
2008
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33. Characterization of acute promyelocytic leukemia cases lacking the classic t(15;17): results of the European Working Party

Author

Grimwade, David, Biondi, Andrea, Mozziconacci, Marie-Joëlle, Hagemeijer, Anne, Berger, Roland, Neat, Michael, Howe, Kathy, Dastugue, Nicole, Jansen, Joop, Radford-Weiss, Isabelle, Coco, Francesco Lo, Lessard, Michel, Hernandez, Jesus-Maria, Delabesse, Eric, Head, David, Liso, Vincenzo, Sainty, Danielle, Flandrin, Georges, Solomon, Ellen, Birg, Françoise, and Lafage-Pochitaloff, Marina

Published
2000
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34. A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlyingPLZF/RARA gene rearrangements

Author

Sainty, Danielle, Liso, Vincenzo, Cantù-Rajnoldi, Angelo, Head, David, Mozziconacci, Marie-Joëlle, Arnoulet, Christine, Benattar, Laurence, Fenu, Susanna, Mancini, Marco, Duchayne, Eliane, Mahon, François-Xavier, Gutierrez, Norma, Birg, Françoise, Biondi, Andrea, Grimwade, David, Lafage-Pochitaloff, Marina, Hagemeijer, Anne, and Flandrin, Georges

Published
2000
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36. Impact of gene mutations on treatment response and prognosis of acute myeloid leukemia secondary to myeloproliferative neoplasms

Author

Venton, Geoffroy, primary, Courtier, Frédéric, additional, Charbonnier, Aude, additional, D'incan, Evelyne, additional, Saillard, Colombe, additional, Mohty, Bilal, additional, Mozziconacci, Marie‐Joëlle, additional, Birnbaum, Daniel, additional, Murati, Anne, additional, Vey, Norbert, additional, and Rey, Jérôme, additional

Published
2017
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40. Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Author

Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Labis, Elise, Terré, Christine, Nadal, Nathalie, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Taviaux, Sylvie, Chapiro, Elise, Nguyen Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), Lambert, Frédéric, Vikkula, Miikka, Poirel, Hélène, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, CHU de Liège - Center for Human Genetics, CHU de Nice - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Lille - Center for Human Genetics, CHU de Montpellier - Center for Human Genetics, Groupe Hospitalier Pitié-Salpétrière - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, IPG - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, Institut Paoli-Calmettes - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, Centre Hospitalier de Versailles - Center for Human Genetics, and UCL - SSS/DDUV - Institut de Duve

Subjects
Myeloid, Follicular lymphoma, lcsh:Medicine, Chromosomal translocation, CYTOGENETIC ANALYSIS, TUMOR-SUPPRESSOR GENE, Hematologic Cancers and Related Disorders, Chromosomal Disorders, Chromosome instability, hemic and lymphatic diseases, Molecular Cell Biology, lcsh:Science, In Situ Hybridization, Fluorescence, MYELODYSPLASTIC SYNDROME, Multidisciplinary, medicine.diagnostic_test, Chromosome Biology, NON-HODGKINS-LYMPHOMAS, Chromosomal Deletions and Duplications, Genomics, Hematology, Telomere, DNA-Binding Proteins, medicine.anatomical_structure, Oncology, Chromosomes, Human, Pair 1, Hematologic Neoplasms, Cytogenetic Analysis, Medicine, Research Article, medicine.medical_specialty, Chromosome Structure and Function, Biology, Polymorphism, Single Nucleotide, Cell Line, Cytogenetics, CHROMOSOMAL TRANSLOCATIONS, Complex Karyotype, medicine, Genetics, Cancer Genetics, Humans, Clinical Genetics, Chromosome Aberrations, CHRONIC LYMPHOCYTIC-LEUKEMIA, Breakpoint, lcsh:R, Biology and Life Sciences, Cancers and Neoplasms, Human Genetics, IN-SITU HYBRIDIZATION, medicine.disease, Molecular biology, COPY NUMBER, NEUROBLASTOMA, lcsh:Q, FOLLICULAR LYMPHOMA, Fluorescence in situ hybridization, Transcription Factors
Abstract

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

Published
2011

42. Prognostic significance of myelodysplasia-related changes according to the WHO classification among ELN-intermediate-risk AML patients

Author

Devillier, Raynier, primary, Gelsi-Boyer, Véronique, additional, Murati, Anne, additional, Prebet, Thomas, additional, Rey, Jérôme, additional, Etienne, Anne, additional, D'Incan, Evelyne, additional, Charbonnier, Aude, additional, Blaise, Didier, additional, Mozziconacci, Marie-Joëlle, additional, and Vey, Norbert, additional

Published
2014
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43. A recurrent chromosome translocation breakpoint in breast and pancreatic cancer cell lines targets the neuregulin/ NRG1 gene

Author

Adélaïde, José, Huang, Huai-En, Murati, Anne, Alsop, Amber, Orsetti, Béatrice, Mozziconacci, Marie-Joëlle, Popovici, Cornel, Ginestier, Christophe, Letessier, Anne, Basset, Céline, Courtay-Cahen, Céline, Jacquemier, Jocelyne, Theillet, Charles, Birnbaum, Daniel, Edwards, Paul A.W., Chaffanet, Max, Cancérologie et thérapeutique expérimentales [Marseille] (Inserm U119/IPC), 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), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), University of Cambridge [UK] (CAM), CRLCC Val d'Aurelle - Paul Lamarque, and CHAFFANET, Max

Subjects
Neuregulin-1, Chromosome Mapping, Codon, Initiator, Breast Neoplasms, Chromosome Breakage, [SDV.CAN]Life Sciences [q-bio]/Cancer, Exons, Translocation, Genetic, Pancreatic Neoplasms, [SDV.CAN] Life Sciences [q-bio]/Cancer, mental disorders, Tumor Cells, Cultured, Humans, Protein Isoforms, RNA, Messenger, RNA, Neoplasm
Abstract

International audience; The 8p11-21 region is a frequent target of alterations in breast cancer and other carcinomas. We surveyed 34 breast tumor cell lines and 9 pancreatic cancer cell lines for alterations of this region by use of multicolor fluorescence in situ hybridization (M-FISH) and BAC-specific FISH. We describe a recurrent chromosome translocation breakpoint that targets the NRG1 gene on 8p12. NRG1 encodes growth factors of the neuregulin/heregulin-1 family that are ligands for tyrosine kinase receptors of the ERBB family. Breakpoints within the NRG1 gene were found in four of the breast tumor cell lines: ZR-75-1, in a dic(8;11); HCC1937, in a t(8;10)(p12;p12.1); SUM-52, in an hsr(8)(p12); UACC-812, in a t(3;8); and in two of the pancreatic cancer cell lines: PaTu I, in a der(8)t(4;8); and SUIT-2, in a del(8)(p). Mapping by two-color FISH showed that the breaks were scattered over 1.1 Mb within the NRG1 gene. It is already known that the MDA-MB-175 breast tumor cell line has a dic(8;11), with a breakpoint in NRG1 that fuses NRG1 to the DOC4 gene on 11q13. Thus, we have found a total of seven breakpoints, in two types of cancer cell lines, that target the NRG1 gene. This suggests that the NRG1 locus is a recurring target of translocations in carcinomas. PCR analysis of reverse-transcribed cell line RNAs revealed an extensive complexity of the NRG1 transcripts but failed to detect a consistent pattern of mRNA isoforms in the cell lines with NRG1 breakpoint.

Published
2003
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44. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies

Author

UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Montano Almendras, Carmen Patricia, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO), Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Auger, Nathalie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Roche-Lestienne, Catherine, Latinne, Dominique, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Montano Almendras, Carmen Patricia, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO), Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Auger, Nathalie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Roche-Lestienne, Catherine, Latinne, Dominique, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, and Poirel, Hélène

Abstract

The PRDM16 (1p36) gene is rearranged in acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) with t(1;3)(p36;q21), sharing characteristics with AML and MDS with MECOM (3q26.2) translocations. We used fluorescence in situ hybridization to study 39 haematological malignancies with translocations involving PRDM16 to assess the precise breakpoint on 1p36 and the identity of the partner locus. Reverse-transcription polymerase chain reaction (PCR) was performed in selected cases in order to confirm the partner locus. PRDM16 expression studies were performed on bone marrow samples of patients, normal controls and CD34(+) cells using TaqMan real-time quantitative PCR. PRDM16 was rearranged with the RPN1 (3q21) locus in 30 cases and with other loci in nine cases. The diagnosis was AML or MDS in most cases, except for two cases of lymphoid proliferation. We identified novel translocation partners of PRDM16, including the transcription factors ETV6 and IKZF1. Translocations involving PRDM16 lead to its overexpression irrespective of the consequence of the rearrangement (fusion gene or promoter swap). Survival data suggest that patients with AML/MDS and PRDM16 translocations have a poor prognosis despite a simple karyotype and a median age of 65 years. There seems to be an over-representation of late-onset therapy-related myeloid malignancies.

Published
2012

45. Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course

Author

UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre de génétique médicale UCL, Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène, Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, Michaux, Lucienne, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre de génétique médicale UCL, Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène, Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, and Michaux, Lucienne

Abstract

Translocations involving MYC are rare in chronic lymphocytic leukemia (CLL), and up to now, their prognostic significance remains unclear. We report the characteristics of 21 patients with CLL and nine patients with prolymphocytic leukemia (PLL), diagnosed in multiple centers (n = 13), which showed an MYC translocation demonstrated by fluorescence in situ hybridization. The prevalence was estimated to be <1%. Advanced age and male predominance were observed. Morphological analysis frequently revealed the presence of prolymphocytes. A typical "CLL-immunophenotype" was found in four of nine cases with PLL. Moreover, CD5 and CD23 were frequently expressed in PLL. The latter findings are atypical for PLL and may suggest transformation or progression of an underlying CLL. MYC translocations were frequently observed with concomitant adverse cytogenetic markers, such as del(11q) (n = 8/30) and/or del(17p)/monosomy 17 (n = 7/30). In addition, the presence of unbalanced translocations (n = 24 in 13/30 cases) and complex karyotype (n = 16/30) were frequent in cases with MYC translocations. Altogether, del(17p)/monosomy 17, del(11q), and/or complex karyotype were observed in 22 of 30 patients. Survival outcome was poor: the median time to treatment was only 5 months, and overall survival (OS) from clinical diagnosis and from genetic detection was 71 and 19 months, respectively. In conclusion, CLL/PLL with MYC translocations is a rare entity, which seems to be associated with adverse prognostic features and unfavorable outcome.

Published
2012

48. PRDM16 alterations are frequently encountered in secondary acute myeloid leukemias after chemotherapy and/or radiation therapy

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Institut Paoli-Calmettes, Marseille - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, CHU de Liège - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Nice - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, IPG, Gosselies - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, CHU Timone, Marseille - Center for Human Genetics, Hôpital Arnaud de Villeneuve, Montpellier - Center for Human Genetics, Institut Gustave Roussy, Villejuif - Center for Human Genetics, CHU de Lille - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Auger, Nathalie, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, 13th Annual Meeting of the Belgian Society of Medical Oncology, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Institut Paoli-Calmettes, Marseille - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, CHU de Liège - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Nice - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, IPG, Gosselies - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, CHU Timone, Marseille - Center for Human Genetics, Hôpital Arnaud de Villeneuve, Montpellier - Center for Human Genetics, Institut Gustave Roussy, Villejuif - Center for Human Genetics, CHU de Lille - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Nadal, Nathalie, Rack, Katrina, Mugneret, Francine, Tigaud, Isabelle, Lafage, Marina, Taviaux, Sylvie, Auger, Nathalie, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, and 13th Annual Meeting of the Belgian Society of Medical Oncology

Published
2011

49. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Institut Paoli-Calmettes, Marseille - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, CHU de Liège - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Nice - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, CHU Timone, Marseille - Center for Human Genetics, Institut Gustave Roussy, Villejuif - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Nadal, Nathalie, Lafage, Marina, Auger, Nathalie, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, Annual Meeting of the American Society of Clinical Oncology (ASCO), UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Institut Paoli-Calmettes, Marseille - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, CHU de Liège - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Nice - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, CHU Timone, Marseille - Center for Human Genetics, Institut Gustave Roussy, Villejuif - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Bahloula, Khadija, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, Lippert, Eric, Speleman, Frank, Herens, Christian, Struski, Stéphanie, Raynaud, Sophie, Nadal, Nathalie, Lafage, Marina, Auger, Nathalie, Libouton, Jeanne-Marie, Demoulin, Jean-Baptiste, Poirel, Hélène, and Annual Meeting of the American Society of Clinical Oncology (ASCO)

Published
2011

50. Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, CHU de Liège - Center for Human Genetics, CHU de Nice - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Lille - Center for Human Genetics, CHU de Montpellier - Center for Human Genetics, Groupe Hospitalier Pitié-Salpétrière - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, IPG - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, Institut Paoli-Calmettes - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, Centre Hospitalier de Versailles - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Labis, Elise, Terré, Christine, Nadal, Nathalie, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Taviaux, Sylvie, Chapiro, Elise, Nguyen Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), Lambert, Frédéric, Vikkula, Miikka, Poirel, Hélène, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, CHU de Liège - Center for Human Genetics, CHU de Nice - Center for Human Genetics, KULeuven - Center for Human Genetics, CHU de Lille - Center for Human Genetics, CHU de Montpellier - Center for Human Genetics, Groupe Hospitalier Pitié-Salpétrière - Center for Human Genetics, Hôpital Purpan, Toulouse - Center for Human Genetics, CHU de Bordeaux - Center for Human Genetics, UZ Ghent - Center for Human Genetics, IPG - Center for Human Genetics, CHU de Nantes - Center for Human Genetics, CHU de Dijon - Center for Human Genetics, Centre Hospitalier Lyon Sud - Center for Human Genetics, Institut Paoli-Calmettes - Center for Human Genetics, CHU Hôpital Nord, Saint-Etienne - Center for Human Genetics, Centre Hospitalier de Versailles - Center for Human Genetics, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Labis, Elise, Terré, Christine, Nadal, Nathalie, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Taviaux, Sylvie, Chapiro, Elise, Nguyen Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), Lambert, Frédéric, Vikkula, Miikka, and Poirel, Hélène

Abstract

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

Published
2011

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