3 results on '"Eclache, Virginie"'
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2. Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis
- Author
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Herbaux, Charles, Duployez, Nicolas, Badens, Catherine, Poret, Nicolas, Gardin, Claude, Decamp, Mathieu, Eclache, Virginie, Daliphard, Sylvie, Murati, Anne, Cony-Makhoul, Pascale, Cheze, Stéphane, Beve, Blandine, Lacoste, Caroline, Prebet, Thomas, Hunault-Berger, Mathilde, Maloisel, Frédéric, Renneville, Aline, Figeac, Martin, Stamatoullas-Bastard, Aspasia, Bastard, Christian, Fenaux, Pierre, Preudhomme, Claude, Rose, Christian, Service d'Hématologie [Institut Catholique de Lille, Lille], Institut Catholique de Lille (ICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Service des Maladies du Sang [CHU Lille] (SMS), Hôpital Claude Huriez [Lille], CHU Lille-CHU Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'Hématologie [CHRU Lille] (Centre de Biologie et de Pathologie), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut pour la recherche sur le cancer de Lille [Lille] (IRCL), Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service d'hématologie biologique [Avicenne], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Service d'Hématologie Biologique [Hôpital Robert Debré, Paris], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Service d'Hématologie [CH Annecy], CH Annecy, Laboratoire d'Hématologie Biologique [CHU Caen], Service d'hématologie clinique [Avicenne], Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'hématologie [Angers], PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Laboratoire d'Hématologie [Strasbourg], CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel), GFM (Groupe Francophone des Myelodysplasies), Bernardo, Elizabeth, Service des Maladies du Sang [CHRU Lille], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris 13 (UP13)-Hôpital Avicenne [AP-HP]
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Aged, 80 and over ,X-linked Nuclear Protein ,DNA Mutational Analysis ,DNA Helicases ,Gene Expression ,Nuclear Proteins ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Middle Aged ,Hematopoietic Stem Cells ,Survival Analysis ,[SDV.CAN] Life Sciences [q-bio]/Cancer ,Mutation Rate ,alpha-Thalassemia ,hemic and lymphatic diseases ,Myelodysplastic Syndromes ,Humans ,Aged - Abstract
International audience; Acquired α-thalassemia myelodysplastic syndrome (MDS) (ATMDS) is an acquired syndrome characterized by a somatic point mutation or splicing defect in the ATRX gene in patients with myeloid disorders, primarily MDS. In a large MDS patient series, the incidence of ATMDS was below 0.5%. But no large series has yet assessed the incidence of ATMDS in microcytic MDS. In this study, we focused on patients with MDS and unexplained microcytosis, which was defined as absence of iron deficiency, inflammatory disease, or history of inherited hemoglobinopathy. Our data confirm the low frequency of ATRX mutations in MDS: 0% in an unselected clinical trial cohort of 80 low risk MDS, 0.2-0.8% in a multicenter registry of 2,980 MDS and 43% of MDS with unexplained microcytosis in this same registry. In addition, we reported four novel mutations of the ATRX gene in ATMDS. This study further determines the frequency of ATRX mutations and highlights the importance of microcytosis to detect ATRX mutations within MDS patients.
- Published
- 2015
3. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11
- Author
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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
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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.
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