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6 results on '"leukaemia cytogenetics"'

3. NAP1L1- MLLT10 is a rare recurrent translocation that is associated with HOXA activation and poor treatment response in T-cell acute lymphoblastic leukaemia.

Author

Bond, Jonathan, Touzart, Aurore, Cieslak, Agata, Trinquand, Amélie, Marchand, Tony, Escoffre, Martine, Contet, Audrey, Muller, Marc, Schmitt, Claudine, Fest, Thierry, Asnafi, Vahid, and Macintyre, Elizabeth

Subjects
*CHROMOSOMAL translocation, *LYMPHOBLASTIC leukemia, *HISTONE methyltransferases, *HISTONES, *MEDICAL genetics
Abstract

The article reports on a study that investigated the incidence of the NAP1L1-MLLT10 translocation in T-acute lymphoblastic leukaemia (T-ALL). It describes the discovery of the NAP1L1-MLLT10 genetic rearrangement as well as the clinical details of NAP1L1-MLLT10 patients. It also discusses the mechanism by which NAP1L1-MLLT10 is likely to recruit the DOT1 ligand histone methyltransferase and to activate the HOXA locus.

Published
2016
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5. NAP1L1-MLLT10 is a rare recurrent translocation that is associated with HOXA activation and poor treatment response in T-cell acute lymphoblastic leukaemia

Author

Aurore Touzart, Tony Marchand, Agata Cieslak, Marc Muller, Jonathan Bond, Elizabeth Macintyre, Martine Escoffre, Claudine Schmitt, Vahid Asnafi, Thierry Fest, Audrey Contet, Amélie Trinquand, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Microenvironnement et cancer (MiCa), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Unité de Transplantation Médullaire, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Hôpital d'enfants, Service de Médecine Nucléaire [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Hématologie Pédiatrique [CHRU Nancy], Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service hématologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), B, AT, AC, AT, MM and TF performed and interpreted diagnostic investigations. TM, ME, AC and CS provided clinical care and interpreted clinical data. JB, VA and EAM analysed and collated data and wrote the manuscript. JB is supported by a Kay Kendall Leukaemia Fund Intermediate Research Fellowship. The Macintyre laboratory is supported by the Association Laurette Fugain and the INCa CARAMELE Translational Research and PhD Programmes., Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Médecine Nucléaire [Nancy], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Institut Necker Enfants-Malades (INEM) ( INEM - UM 111 (UMR 8253 / U1151) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire d'hématologie ( ERL 8254 ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Microenvironnement et cancer ( MiCa ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ) -Hôpital d'enfants, Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), and Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
0301 basic medicine, acute leukaemia, Treatment response, NAP1L1, [SDV]Life Sciences [q-bio], MEDLINE, Chromosomal translocation, HOXA, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Text mining, Medicine, clinical aspects, Young adult, leukaemia cytogenetics, ComputingMilieux_MISCELLANEOUS, [ SDV ] Life Sciences [q-bio], business.industry, biology, T-cell acute lymphoblastic leukaemia, Hematology, 3. Good health, 030104 developmental biology, Cancer research, business, 030215 immunology
Abstract

International audience; no abstract

Published
2016

6. Successful routine cytogenetic analysis from trephine biopsy specimens following failure to aspirate bone marrow.

Author

Fyfe, Andrew J., Drummond, Mark, and Morris, Avril

Subjects
*CHROMOSOME analysis, *NEEDLE biopsy, *DIAGNOSTIC specimens, *LYMPHOPROLIFERATIVE disorders, *PARACENTESIS, *HUMAN cytogenetics, *BONE marrow diseases, *THERAPEUTICS
Abstract

The article discusses the usefulness of cytogenetic analysis submitted from trephine biopsy samples for bone marrow aspiration. It presents cases which illustrates the significance of the trephine biopsy approach for patients with malignant diseases. It also looks into the successful analysis of the cellular material obtained from trephine cores. Moreover, it proposes that a second trephine core can be send in standard transport medium in patients with failure prognosis and marrow aspiration.

Published
2009
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