Please use this identifier to cite or link to this item: https://ninho.inca.gov.br/jspui/handle/123456789/9704
Title: The MLL recombinome of acute leukemias in 2017
Authors: Meyer, Claus
Burmeister, Thomas
Gröger, Daniela
Tsaur, Grigory
Fechina, Larisa
Renneville, Aline
Sutton, Rosemary
Venn, Nicola C.
Emerenciano, Mariana
Pombo-de-Oliveira, Maria do Socorro
Blunck, Caroline Barbieri
Lopes, Bruno de Almeida
Zuna, Jan
Trka, Jan
Ballerini, Paola
Lapillonne, Hélène
Braekeleer, Marc de
Cazzaniga, Giovanni
Corral Abascal, Lilia
Velden, Vincent H. J. Van der
Delabesse, Eric
Park, Tae Sung
Oh, Song Hee
Silva, Maria Luiza Macedo
Lund-Aho, Tiina
Juvonen, Vesa
Moore, Andrew S
Heidenreich, Olaf
Vormoor, Josef
Zerkalenkova, Elena
Olshanskaya, Yulia
Bueno, Clara
Menendez, Pablo
Teigler-Schlegel, Andrea
Stadt, Udo Zur
Lentes, Jana
Göhring, Gudrun
Kustanovich, Anatoly
Aleinikova, Olga
Schäfer, Beat W
Kubetzko, Susanne
Madsen, Hans O.
Gruhn, Bernd
Duarte, Ximo
Gameiro, Paula
Lippert, Eric
Bidet, Audrey
Cayuela, Jean-Michel
Clappier, Emmanuelle
Alonso, Cristina N.
Eibrink, Marry M, Van den Heuvel
Izraeli, Shai
Trakhtenbrot, Luba
Archer, Paul
Hancock, Jeremy
Möricke, Anja
Alten, Julia
Schrappe, Martin
Stanulla, Martin
Strehl, Sabine
Attarbaschi, Andishe
Dworzak, Michael
Haas, Oskar A
Panzer-Grümayer, Renate
Sedék, Lukasz
Szczepanski, Tomasz
Caye, Aurélie
Suarez, Lilia
Cavé, Hélène
Marschalek, Rolf
Zwaan, Christian Michel
Keywords: Aberrações Cromossômicas
Chromosome Aberrations
Aberraciones Cromosómicas
Quebra Cromossômica
Chromosome Breakage
Rotura Cromosómica
Rearranjo Gênico/genética
Gene Rearrangement/genetics
Reordenamiento Génico/genética
Histona-Lisina N-Metiltransferase
Histone-Lysine N-Methyltransferase
N-Metiltransferasa de Histona-Lisina
Leucemia Mieloide Aguda
Leukemia, Myeloid, Acute
Proteína de Leucina Linfoide-Mieloide
Myeloid-Lymphoid Leukemia Protein
Proteína de la Leucemia Mieloide-Linfoide
Proteínas de Fusão Oncogênica
Oncogene Proteins, Fusion
Proteínas de Fusión Oncogénica
Leucemia-Linfoma Linfoblástico de Células Precursoras
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Translocação Genética
Translocation, Genetic
Issue Date: 2018
Publisher: Leukemia
Abstract: Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients.
URI: http://sr-vmlxaph03:8080/jspui/handle/123456789/9704
ISSN: 1476-5551
Appears in Collections:Artigo de Periódicos da Pesquisa Clínica

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