The MLL recombinome of acute leukemias in 2013

• DOI: 10.1038/leu.2013.135
• Publication Date: 2013-04-30T06:41:04Z
• Authors: C Meyer; J Hofmann; T Burmeister; D Gröger; T S Park; M Emerenciano; M Pombo de Oliveira; A Renneville; P Villarese; E Macintyre; H Cavé; E Clappier; K Mass-Malo; J Zuna; J Trka; E De Braekeleer; M De Braekeleer; S H Oh; G Tsaur; L Fechina; V H J van der Velden; J J M van Dongen; E Delabesse; R Binato; M L M Silva; A Kustanovich; O Aleinikova; M H Harris; T Lund-Aho; V Juvonen; O Heidenreich; J Vormoor; W W L Choi; M Jarosova; A Kolenova; C Bueno; P Menendez; S Wehner; C Eckert; P Talmant; S Tondeur; E Lippert; E Launay; C Henry; P Ballerini; H Lapillone; M B Callanan; J M Cayuela; C Herbaux; G Cazzaniga; P M Kakadiya; S Bohlander; M Ahlmann; J R Choi; P Gameiro; D S Lee; J Krauter; P Cornillet-Lefebvre; G Te Kronnie; B W Schäfer; S Kubetzko; C N Alonso; U zur Stadt; R Sutton; N C Venn; S Izraeli; L Trakhtenbrot; H O Madsen; P Archer; J Hancock; N Cerveira; M R Teixeira; L Lo Nigro; A Möricke; M Stanulla; M Schrappe; L Sedék; T Szczepański; C M Zwaan; E A Coenen; M M van den Heuve...; S Strehl; M Dworzak; R Panzer-Grümayer; T Dingermann; T Klingebiel; R Marschalek
• Keywords: Breakpoint; Gene rearrangement

Chromosomal rearrangements of the human MLL (mixed lineage leukemia) gene are associated with high-risk infant, pediatric, adult and therapy-induced acute leukemias. We used long-distance inverse-polymerase chain reaction to characterize chromosomal rearrangement individual leukemia patients. present data molecular characterization 1590 MLL-rearranged biopsy samples obtained from The precise localization genomic breakpoints within involved translocation partner genes (TPGs) were determined novel TPGs identified. All patients classified according their gender (852 females 745 males), age at diagnosis (558 416 pediatric 616 patients) other clinical criteria. Combined our study recently published revealed a total 121 different rearrangements, which 79 now characterized level. However, only seven seem be predominantly illegitimate recombinations (∼90%): AFF1/AF4, MLLT3/AF9, MLLT1/ENL, MLLT10/AF10, ELL, partial tandem duplications (MLL PTDs) MLLT4/AF6, respectively. breakpoint distributions for all relevant subtypes (gender, disease type, diagnosis, reciprocal, complex translocations) presented. Finally, we extending network reciprocal fusions deriving rearrangements.