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1. 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, Mas, Véronique Mansat-De, 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
2021
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3. 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, primary, Gerby, Bastien, additional, Baccini, Véronique, additional, Largeaud, Laetitia, additional, Fregona, Vincent, additional, Prade, Naïs, additional, Juvin, Pierre-Yves, additional, Jamrog, Laura, additional, Bories, Pierre, additional, Hébrard, Sylvie, additional, Lagarde, Stéphanie, additional, Mansat-De Mas, Véronique, additional, Dovey, Oliver M., additional, Yusa, Kosuke, additional, Vassiliou, George S., additional, Jansen, Joop H., additional, Tekath, Tobias, additional, Rombaut, David, additional, Ameye, Geneviève, additional, Barin, Carole, additional, Bidet, Audrey, additional, Boudjarane, John, additional, Collonge-Rame, Marie-Agnès, additional, Gervais, Carine, additional, Ittel, Antoine, additional, Lefebvre, Christine, additional, Luquet, Isabelle, additional, Michaux, Lucienne, additional, Nadal, Nathalie, additional, Poirel, Hélène A., additional, Radford-Weiss, Isabelle, additional, Ribourtout, Bénédicte, additional, Richebourg, Steven, additional, Struski, Stéphanie, additional, Terré, Christine, additional, Tigaud, Isabelle, additional, Penther, Dominique, additional, Eclache, Virginie, additional, Fontenay, Michaela, additional, Broccardo, Cyril, additional, and Delabesse,, Eric, additional

Published
2022
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5. 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

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

Author

Duhoux, Francois P., Ameye, Geneviève, Montano-Almendras, Carmen P., Bahloula, Khadija, Mozziconacci, Marie J., Laibe, Sophy, Wlodarska, Iwona, Michaux, Lucienne, Talmant, Pascaline, Richebourg, Steven, 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 M., Demoulin, Jean-Baptiste, and Poirel, Hélène A.

Published
2012
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8. 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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10. Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations

Author

Lode, Laurence, Ameur, Adam, Coste, Thibault, Menard, Audrey, Richebourg, Steven, Gaillard, Jean-Baptiste, Le Bris, Yannick, Bene, Marie-Christine, Lavabre-Bertrand, Thierry, Soussi, Thierry, Lode, Laurence, Ameur, Adam, Coste, Thibault, Menard, Audrey, Richebourg, Steven, Gaillard, Jean-Baptiste, Le Bris, Yannick, Bene, Marie-Christine, Lavabre-Bertrand, Thierry, and Soussi, Thierry

Published
2018
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11. Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.

Author

Penther, Dominique, Etancelin, Pascaline, Lusina, Daniel, Bidet, Audrey, Quilichini, Benoit, Gaillard, Baptiste, Rafdord‐Weiss, Isabelle, Mozziconacci, Marie Joelle, Ittel, Antoine, Roche‐Lestienne, Catherine, Barin, Carole, Soler, Gwendoline, Daudignon, Agnes, Nadal, Nathalie, Chapiro, Elise, Lefebvre, Christine, Godon, Catherine, Nadeau, Gwenael, Mugneret, Francine, and Richebourg, Steven

Published
2019
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14. Emergence and evolution of TP53 mutations are key features of disease progression in myelodysplastic patients with lower-risk del(5q) treated with lenalidomide

Author

Lodé, Laurence, primary, Ménard, Audrey, additional, Flet, Laurent, additional, Richebourg, Steven, additional, Loirat, Marion, additional, Eveillard, Marion, additional, Le Bris, Yannick, additional, Godon, Catherine, additional, Theisen, Olivier, additional, Gagez, Anne-Laure, additional, Cartron, Guillaume, additional, Commes-Maerten, Thérèse, additional, Villemagne, Bruno, additional, Luycx, Odile, additional, Godmer, Pascal, additional, Pellat-Deceunynck, Catherine, additional, Soussi, Thierry, additional, Béné, Marie C., additional, Delaunay, Jacques, additional, and Peterlin, Pierre, additional

Published
2017
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16. The closely related rare and severe acute myeloid leukemias carrying evi1 or prdm16 rearrangements share singular biological features

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Unité d'oncologie médicale, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - SSS/DDUV - Institut de Duve, Eveillard, Marion, Delaunay, Jacques, Richebourg, Steven, Lodé, Laurence, Garand, Richard, Wuillème, Soraya, Duhoux, François, Poirel, Hélène, Godon, Catherine, Béné, Marie C., UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Unité d'oncologie médicale, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - SSS/DDUV - Institut de Duve, Eveillard, Marion, Delaunay, Jacques, Richebourg, Steven, Lodé, Laurence, Garand, Richard, Wuillème, Soraya, Duhoux, François, Poirel, Hélène, Godon, Catherine, and Béné, Marie C.

Published
2015

17. Large B-Cell Lymphoma With IRF4Rearrangement: From Theory to Practice

Author

Vincent, Gabriel, Richebourg, Steven, Cloutier, Stephanie, Fortin, Melanie, Jacob, Simon, and Amin-Hashem, Mohamed

Abstract

Interferon regulatory factor 4 (IRF4) rearrangement is a common cytogenetic anomaly reported in various neoplastic lymphoproliferative disorders. IRF4is a gene located on chromosome 6 that encodes for the IRF4protein belonging to the IRFfamily of transcription factors. Large B-cell lymphoma with IRF4rearrangement constitutes a novel provisional entity included in the classification of lymphoid tissue recently proposed by the World Health Organization in its fourth revised edition. This rare entity, with a specific clinical presentation, is defined by the presence of a rearrangement of the IRF4gene. We report a rare case of a 19-year-old female patient presenting with a large B-cell lymphoma with IRF4rearrangement located in the right tonsil, with characteristic histologic appearance and the phenotype of neoplastic cells. The presence of an IGH-IRF4rearrangement was also confirmed, using a fluorescence in situ hybridization analysis with 2 successive hybridizations on the same slide. Patient was treated with 6 cycles of R-CHOP with no evidence of recurrence.

Published
2019
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18. 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

19. Backtracking Subclonal Mutations Of TP53 In Myelodysplasia (MDS) With Del(5q) With Next-Generation Sequencing (NGS)

Author

Lodé, Laurence, primary, Ménard, Audrey, additional, Loirat, Marion, additional, Halliez, Maxime, additional, Richebourg, Steven, additional, Talmant, Pascaline, additional, Godon, Catherine, additional, Theisen, Olivier, additional, Le Bris, Yannick, additional, Girard, Cécile, additional, Blin, Nicolas, additional, Luycx, Odile, additional, Sadot-Lebouvier, Sophie, additional, Morineau, Nadine, additional, Godmer, Pascal, additional, Subiger, François, additional, Villemagne, Bruno, additional, Eveillard, Marion, additional, Wuillème, Soraya, additional, Kohlmann, Alexander, additional, Moreau, Philippe, additional, Delaunay, Jacques, additional, and Bene, Marie C, additional

Published
2013
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20. 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

21. Morphology, cytogenetics, and survival in myelodysplasia with del(20q) or ider(20q): a multicenter study

Author

UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - (MGD) Laboratoire de biologie clinique, UCL - (MGD) Service d'hématologie, UCL - (SLuc) Service d'hématologie, Mullier, François, Daliphard, Sylvie, Garand, Richard, Dekeyser, Mélanie, Cornet, Yvan, Luquet, Isabelle, Talmant, Pascaline, Richebourg, Steven, Jamar, Mauricette, Dogné, Jean-Michel, Chatelain, Christian, Michaux, Lucienne, Chatelain, Bernard, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - (MGD) Laboratoire de biologie clinique, UCL - (MGD) Service d'hématologie, UCL - (SLuc) Service d'hématologie, Mullier, François, Daliphard, Sylvie, Garand, Richard, Dekeyser, Mélanie, Cornet, Yvan, Luquet, Isabelle, Talmant, Pascaline, Richebourg, Steven, Jamar, Mauricette, Dogné, Jean-Michel, Chatelain, Christian, Michaux, Lucienne, and Chatelain, Bernard

Abstract

Isochromosome of the long arm of chromosome 20 with interstitial loss of material [ider(20q)] is a rare cytogenetic abnormality reported in myelodysplastic syndrome (MDS), with neither specific morphological pattern nor clear prognostic significance. The aim of this retrospective multicentric study is to compare the peripheral blood and bone marrow morphology of MDS patients with ider(20q) (n = 13) and del(20q) (n = 21) and controls (n = 47) in order to investigate whether the ider(20q) harbors specific morphological features. The secondary objective is to compare the outcome of patients from both groups. This study performed on the largest cohort of MDS patients with ider(20q) is the first that identifies specific morphological features (hypogranulated and vacuolized neutrophils and neutrophil erythrophagocytosis) allowing the identification of this cytogenetic abnormality with high sensitivity (70%) and specificity (85.7%). Suspected ider(20q) by morphology should therefore support targeted FISH tests in case of non informative karyotype. This combined approach will allow a better estimation of the prevalence of this underdiagnozed entity. The overall survival and progression-free survival did not statistically differ in both groups. However, hypogranulated and vacuolized neutrophils were significantly associated with survival.

Published
2012

22. 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

23. 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

24. 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

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

Author

UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Nguyen-Khac, Florence, Khac, Florence Nguyen, 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, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, Poirel, Hélène, UCL - SSS/DDUV - Institut de Duve, Duhoux, François, Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Nguyen-Khac, Florence, Khac, Florence Nguyen, 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, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, 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

27. Morphology, cytogenetics, and survival in myelodysplasia with del(20q) or ider(20q): a multicenter study

Author

Mullier, François, primary, Daliphard, Sylvie, additional, Garand, Richard, additional, Dekeyser, Mélanie, additional, Cornet, Yvan, additional, Luquet, Isabelle, additional, Talmant, Pascaline, additional, Richebourg, Steven, additional, Jamar, Mauricette, additional, Dogné, Jean-Michel, additional, Chatelain, Christian, additional, Michaux, Lucienne, additional, and Chatelain, Bernard, additional

Published
2011
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28. Specific Chromosomal IG Translocations Have Different Prognosis In Chronic Lymphocytic Leukemia

Author

Nguyen-Khac, Florence, primary, Lesty, CLaude, additional, Chapiro, Elise, additional, Grelier, Aurore, additional, Luquet, Isabelle, additional, Radford-Weiss, Isabelle, additional, Fertferrer, Sandra, additional, Callet-Bauchu, Evelyne, additional, Lefebvre, Christine, additional, Lippert, Eric, additional, Terré, Christine, additional, Michaux, Lucienne, additional, Collonge-Rame, Marie-Agnes, additional, Barin, Carole, additional, Mugneret, Francine, additional, Talmant, Pascaline, additional, Taviaux, Sylvie, additional, Struski, Stephanie, additional, Eclache, Virginie, additional, Gervais, Carine, additional, Quilichini, Benoit, additional, Gachard, Nathalie, additional, Richebourg, Steven, additional, Dastugue, Nicole, additional, Settegrana, Catherine, additional, Davi, Frederic, additional, Maloum, Karim, additional, and Merle-Beral, Helene, additional

Published
2010
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29. Outcome of Refractory Anemia with Ringed Sideroblasts Associated with Marked Thrombocytosis (RARS-T) In a Large Cohort of Patients

Author

Girodon, Francois, primary, Broseus, Julien, additional, Florensa, Lourdes, additional, Zipperer, Esther, additional, Schnittger, Susanne, additional, Malcovati, Luca, additional, Richebourg, Steven, additional, Lippert, Eric, additional, Cermak, Jaroslav, additional, Nangalia, Jyoti, additional, Mounier, Morgane, additional, Raya, Jose Maria, additional, Gattermann, Norbert, additional, Haferlach, Torsten, additional, Cazzola, Mario, additional, Garand, Richard, additional, Kaoutar, Allou, additional, Maynadie, Marc, additional, Besses, Carlos, additional, Germing, Ulrich, additional, Haferlach, Claudia, additional, Travaglino, Erica, additional, and Hermouet, Sylvie, additional

Published
2010
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30. Morphology, Cytogenetics and Survival In myelodysplasia with Del(20q) or Ider(20q): a Multicentric Study

Author

Mullier, François, primary, Daliphard, Sylvie, additional, Garand, Richard, additional, Dekeyser, Mélanie, additional, Cornet, Yvan, additional, Luquet, Isabelle, additional, Talmant, Pascaline, additional, Richebourg, Steven, additional, Jamar, Mauricette, additional, Dogné, Jean-Michel, additional, Chatelain, Christian, additional, Michaux, Lucienne, additional, and Chatelain, Bernard, additional

Published
2010
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32. Influence of NPM1 and FLT3-ITD Status On Outcome in Relapsed/Refractory AML Patients with Normal Karyotype and Receiving Salvage Therapy Including Gemtuzumab Ozogamicin (GO).

Author

Chevallier, Patrice, primary, Prebet, Thomas, additional, Pigneux, Arnaud, additional, Hunault, Mathilde, additional, Delaunay, Jacques, additional, Perry, Frederic, additional, Lode, Laurence, additional, Richebourg, Steven, additional, Blanchet, Odile, additional, Vey, Norbert, additional, Ifrah, Norbert, additional, Milpied, Noel-Jean, additional, Blaise, Didier, additional, Harousseau, Jean-Luc, additional, and Mohty, Mohamad, additional

Published
2009
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34. Chronic myeloproliferative disorder with t(8;22)(p11;q11) can mime clonal cytogenetic evolution of authentic chronic myelogeneous leukemia

Author

Richebourg, Steven, primary, Theisen, Olivier, additional, Plantier, Isabelle, additional, Parry, Anne, additional, Soenen‐Cornu, Valérie, additional, Lepelley, Pascale, additional, Preudhomme, Claude, additional, Renneville, Aline, additional, Laï, Jean‐Luc, additional, and Roche‐Lestienne, Catherine, additional

Published
2008
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37. 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

Subjects
Leukemia, Myeloid, Acute, Mice, hemic and lymphatic diseases, Chromosomes, Human, Pair 11, Myelodysplastic Syndromes, Cell Adhesion Molecule-1, Animals, Humans, Female, Genes, Tumor Suppressor, Chromosome Deletion, 3. Good health
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 CBL genes. 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. CADM1 was 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 CBL and mutations of ASXL1, SF3B1, and CBL, we show that CADM1 may be important in the physiopathology of the del(11q) MDS, extending its role as tumor-suppressor gene from solid tumors to hematopoietic malignancies.

38. Backtracking Subclonal Mutations Of TP53In Myelodysplasia (MDS) With Del(5q) With Next-Generation Sequencing (NGS)

Author

Lodé, Laurence, Ménard, Audrey, Loirat, Marion, Halliez, Maxime, Richebourg, Steven, Talmant, Pascaline, Godon, Catherine, Theisen, Olivier, Le Bris, Yannick, Girard, Cécile, Blin, Nicolas, Luycx, Odile, Sadot-Lebouvier, Sophie, Morineau, Nadine, Godmer, Pascal, Subiger, François, Villemagne, Bruno, Eveillard, Marion, Wuillème, Soraya, Kohlmann, Alexander, Moreau, Philippe, Delaunay, Jacques, and Bene, Marie C

Abstract

Landscape analyses of mutational patterns have shown that virtually all myelodysplastic syndromes (MDS) harbor somatic mutations in >80% of cases. These molecular alterations provide useful clonality markers with a potential for early diagnosis of MDS when only cytopenia without marked dysplasia is observed. These markers have been proposed as future prognostic tools to guide therapeutic strategies (Bejar et al., 2011; Itzykson et al, 2013; Mufti et al2013). Mutational analysis is finally a good way to track disease complexity by deciphering oligoclonality in MDS and better understand clonal evolution.

Published
2013
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39. Specific Chromosomal IGTranslocations Have Different Prognosis In Chronic Lymphocytic Leukemia

Author

Nguyen-Khac, Florence, Lesty, CLaude, Chapiro, Elise, Grelier, Aurore, Luquet, Isabelle, Radford-Weiss, Isabelle, Fertferrer, Sandra, Callet-Bauchu, Evelyne, Lefebvre, Christine, Lippert, Eric, Terré, Christine, Michaux, Lucienne, Collonge-Rame, Marie-Agnes, Barin, Carole, Mugneret, Francine, Talmant, Pascaline, Taviaux, Sylvie, Struski, Stephanie, Eclache, Virginie, Gervais, Carine, Quilichini, Benoit, Gachard, Nathalie, Richebourg, Steven, Dastugue, Nicole, Settegrana, Catherine, Davi, Frederic, Maloum, Karim, and Merle-Beral, Helene

Abstract

Abstract 582

Published
2010
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40. Molecular landscape of mature B-cell lymphoproliferative disorders with BCL3-translocation: A Groupe Francophone de Cytogénétique Hématologique (GFCH)/French Innovative Leukemia Organization (FILO) study.

Author

Véronèse L, Bensaber H, Dannus LT, Giannone G, Choiset C, Grimpret C, Abermil N, Balducci E, Bidet A, Chapiro E, Couronné L, Daudignon A, Douet-Gilbert N, Eclache V, Gaillard B, Gaillard JB, Hsoumi F, Lefebvre C, Nadal N, Mozziconacci MJ, Penther D, Ribourtout B, Richebourg S, Rigollet L, Terre C, Soler G, Tournilhac O, Guièze R, Nguyen-Khac F, and Tchirkov A

Subjects
Humans, Male, Female, Middle Aged, Lymphoproliferative Disorders genetics, Lymphoproliferative Disorders diagnosis, Aged, B-Lymphocytes metabolism, B-Lymphocytes pathology, Adult, France, B-Cell Lymphoma 3 Protein, Translocation, Genetic
Published
2024
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41. 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 B, Cornillet-Lefebvre P, Le QH, Maloum K, Pannetier M, Lecoq-Lafon C, Grange B, Jondreville L, Michaux L, Nadal N, Ittel A, Luquet I, Struski S, Lefebvre C, Gaillard JB, Lafage-Pochitaloff M, Balducci E, Penther D, Barin C, Collonge-Rame MA, Jimenez-Poquet M, Richebourg S, Lemaire P, Defasque S, Radford-Weiss I, Bidet A, Susin SA, Nguyen-Khac F, and Chapiro E

Subjects
Adult, Aged, Aged, 80 and over, Bronchial Neoplasms diagnosis, Bronchial Neoplasms metabolism, Cell Differentiation, Chromosome Aberrations, Female, Genes, p53 genetics, Humans, Immunoglobulin Heavy Chains metabolism, In Situ Hybridization, Fluorescence methods, Leukemia, Lymphocytic, Chronic, B-Cell diagnosis, Leukemia, Lymphocytic, Chronic, B-Cell drug therapy, Lymphoma, B-Cell, Marginal Zone diagnosis, Lymphoma, B-Cell, Marginal Zone drug therapy, Male, Middle Aged, Mutation, Phenotype, Survival Analysis, Tertiary Lymphoid Structures pathology, Translocation, Genetic genetics, Trisomy genetics, CD5 Antigens metabolism, Cyclin-Dependent Kinase 6 metabolism, Leukemia, Lymphocytic, Chronic, B-Cell metabolism, Lymphoma, B-Cell, Marginal Zone metabolism, Splenic Neoplasms pathology, Tumor Suppressor Protein p53 metabolism
Abstract

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., (© 2020 British Society for Haematology and John Wiley & Sons Ltd.)

Published
2021
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42. Emergence and evolution of TP53 mutations are key features of disease progression in myelodysplastic patients with lower-risk del(5q) treated with lenalidomide.

Author

Lodé L, Ménard A, Flet L, Richebourg S, Loirat M, Eveillard M, Le Bris Y, Godon C, Theisen O, Gagez AL, Cartron G, Commes-Maerten T, Villemagne B, Luycx O, Godmer P, Pellat-Deceunynck C, Soussi T, Béné MC, Delaunay J, and Peterlin P

Subjects
Disease Progression, Female, Humans, Lenalidomide therapeutic use, Male, Middle Aged, Myelodysplastic Syndromes classification, Myelodysplastic Syndromes diagnosis, Prognosis, Chromosome Deletion, Chromosomes, Human, Pair 5, Mutation, Myelodysplastic Syndromes genetics, Tumor Suppressor Protein p53 genetics
Published
2018
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43. Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations.

Author

Lodé L, Ameur A, Coste T, Ménard A, Richebourg S, Gaillard JB, Le Bris Y, Béné MC, Lavabre-Bertrand T, and Soussi T

Subjects
Alleles, Genetic Association Studies, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Leukemia, Myeloid, Acute mortality, Leukemia, Myeloid, Acute pathology, Leukemia, Myeloid, Acute therapy, Mutation, Myelodysplastic Syndromes mortality, Myelodysplastic Syndromes pathology, Myelodysplastic Syndromes therapy, Prognosis, Sequence Analysis, DNA, Genetic Variation, Leukemia, Myeloid, Acute genetics, Myelodysplastic Syndromes genetics, Tumor Suppressor Protein p53 genetics
Published
2018
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44. The closely related rare and severe acute myeloid leukemias carrying EVI1 or PRDM16 rearrangements share singular biological features.

Author

Eveillard M, Delaunay J, Richebourg S, Lodé L, Garand R, Wuillème S, Duhoux F, Antoine-Poirel H, Godon C, and Béné MC

Subjects
Humans, DNA-Binding Proteins genetics, Gene Expression, Gene Rearrangement, Leukemia, Myeloid, Acute genetics, Leukemia, Myeloid, Acute mortality, Myeloid-Lymphoid Leukemia Protein genetics, Proto-Oncogenes genetics, Transcription Factors genetics
Published
2015
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45. Genomic breakpoints and clinical features of MLL-TET1 rearrangement in acute leukemias.

Author

Lee SG, Cho SY, Kim MJ, Oh SH, Cho EH, Lee S, Baek EJ, Choi JH, Bohlander SK, Lode L, Richebourg S, Yoon HJ, Marschalek R, Meyer C, and Park TS

Subjects
Acute Disease, Adult, Female, Humans, Leukemia, Myeloid pathology, Male, Middle Aged, Mixed Function Oxygenases, Oncogene Proteins, Fusion genetics, Young Adult, Chromosome Breakpoints, DNA-Binding Proteins genetics, Gene Rearrangement, Leukemia, Myeloid genetics, Myeloid-Lymphoid Leukemia Protein genetics, Proto-Oncogene Proteins genetics
Published
2013
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46. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis.

Author

Broseus J, Florensa L, Zipperer E, Schnittger S, Malcovati L, Richebourg S, Lippert E, Cermak J, Evans J, Mounier M, Raya JM, Bailly F, Gattermann N, Haferlach T, Garand R, Allou K, Besses C, Germing U, Haferlach C, Travaglino E, Luno E, Pinan MA, Arenillas L, Rozman M, Perez Sirvent ML, Favre B, Guy J, Alonso E, Ahwij N, Jerez A, Hermouet S, Maynadié M, Cazzola M, and Girodon F

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Anemia, Refractory complications, Anemia, Refractory mortality, Anemia, Sideroblastic complications, Anemia, Sideroblastic mortality, Blood Platelets pathology, Europe, Female, Humans, Male, Middle Aged, Mutation, Platelet Count, Retrospective Studies, Risk Factors, Survival Analysis, Thrombocythemia, Essential complications, Thrombocythemia, Essential mortality, Thrombocytosis complications, Thrombocytosis mortality, Anemia, Refractory pathology, Anemia, Sideroblastic pathology, Janus Kinase 2 genetics, Thrombocythemia, Essential pathology, Thrombocytosis pathology
Abstract

Background: Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia., Design and Methods: We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases., Results: In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600 × 10(9)/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts., Conclusions: The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity.

Published
2012
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47. Specific chromosomal IG translocations have different prognoses in chronic lymphocytic leukemia.

Author

Nguyen-Khac F, Chapiro E, Lesty C, Grelier A, Luquet I, Radford-Weiss I, Lefebvre C, Fert-Ferrer S, Callet-Bauchu E, Lippert E, Raggueneau V, Michaux L, Barin C, Collonge-Rame MA, Mugneret F, Eclache V, Taviaux S, Dastugue N, Richebourg S, Struski S, Talmant P, Baranger L, Gachard N, Gervais C, Quilichini B, Settegrana C, Maloum K, Davi F, and Merle-Béral H

Abstract

Background: Chromosomal translocations are usually analyzed as a single entity, and are associated with a poor outcome in chronic lymphocytic leukemia. Translocations involving immunoglobulin genes are recurrent, but uncommon (<5%), and their individual prognosis is not clear. The two most frequent partners are BCL2 (18q21) and BCL3 (19q13)., Designs and Methods: Herein, 75 cases are reported of chronic lymphocytic leukemia and t(14;18) (BCL2-CLLs). Our series benefits from morphological, immunological and cytogenetical reviews. The IGHV status analyses were performed by referring laboratories. Comparison was made with our previously published series of chronic lymphocytic leukemia patients with t(14;19) (BCL3-CLLs, n=29)., Results: Compared with BCL3-CLLs, lymphocytosis was lower in BCL2-CLLs (p<0.008), and splenomegaly was less frequent (p<0.0001). There were more "typical" morphologies (p<0.005) and Matutes scores >4 (p<0.001) in the BCL2-CLLs group, and less CD38 expression (p<0.04). More variant BCL2-translocations were observed (t(18;22), n=11; 2t(2;18), n=2; p<0.02), and BCL2-translocation was frequently single (p<0.002). Complex karyotypes (p<0.02), trisomy 12 (p<0.03), 6q deletion (p<0.002) and TP53 deletion (p<0.02) were less frequent in BCL2-CLLs, whereas 13q deletion was more frequent (p<0.005). The IGHV gene was frequently mutated in BCL2-CLLs (p<0.0001). Treatment-free survival was longer in BCL2-CLLs (p<0.0001)., Conclusions: BCL2-CLL.S express CD5 and lack expression of CD38, and have a Matutes score ≥4, frequent trisomy 12, no ATM and 6q deletions, and a mutated IGHV status. Compared to BCL3-CLLs, BCL2-CLLs are much less aggressive; indicating that identifying individual translocations and cytogenetic partners would allow improved patient stratification.

Published
2011

48. Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma.

Author

Lodé L, Eveillard M, Trichet V, Soussi T, Wuillème S, Richebourg S, Magrangeas F, Ifrah N, Campion L, Traullé C, Guilhot F, Caillot D, Marit G, Mathiot C, Facon T, Attal M, Harousseau JL, Moreau P, Minvielle S, and Avet-Loiseau H

Subjects
Chromosome Deletion, Chromosomes, Human, Pair 17, Disease-Free Survival, Female, Humans, Male, Risk Factors, Smith-Magenis Syndrome, Survival Rate, Gene Deletion, Multiple Myeloma genetics, Multiple Myeloma mortality, Tumor Suppressor Protein p53 genetics
Abstract

Deletion of the 17p13 chromosomal region [del(17p)] is associated with a poor outcome in multiple myeloma. Most of the studies have targeted the TP53 gene for deletion analyses, although no study showed that this gene is the deletion target. In order to address this issue, we sequenced the TP53 gene in 92 patients with multiple myeloma at diagnosis, 54 with a del(17p) and 38 lacking del(17p). At least one mutation was found in 20 patients, all of them presenting a del(17p). The analysis of the mutation location showed that virtually all of them occurred in highly conserved domains involved in the DNA-protein interactions. In conclusion, we showed that 37% of the myeloma patients with del(17p) present a TP53 mutation versus 0% in patients lacking the del(17p). The prognostic significance of these mutations remains to be evaluated.

Published
2010
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49. Acute megakaryoblastic leukemia with der(7)t(5;7)(q11;p11 approximately p12) associated with Down syndrome: a fourth case report.

Author

Roche-Lestienne C, Dastugue N, Richebourg S, Roquefeuil B, Dalle JH, Laï JL, and Andrieux J

Subjects
Child, Preschool, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Translocation, Genetic, Chromosome Aberrations, Down Syndrome complications, Leukemia, Megakaryoblastic, Acute complications, Leukemia, Megakaryoblastic, Acute genetics
Published
2006
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