title: Nebulette is the second member of the nebulin family fused to the MLL gene in infant leukemia.
abstract: Genetic aberrations involving the mixed lineage leukemia (MLL) gene are frequently diagnosed in infant acute lymphoblastic and acute myeloid leukemia. More than 60 fusion partner genes have been described at the molecular level, 31 of which have been characterized solely in infant leukemia cases. Here we describe a new MLL fusion partner gene, NEBL, which was identified in a case of acute myeloid leukemia in an infant. The chromosomal breakpoints of the MLL-NEBL and NEBL-MLL fusion genes were cloned by long-distance inverse polymerase chain reaction. The chromosomal breakpoints were located at 10p12, approximately 570 kb telomic of the MLLT10 (AF10) gene. AF10 and NEBL are localized in such close vicinity that they cannot be distinguished cytogenetically by G banding. Therefore, the combination of cytogenetic and independent molecular techniques such as long-distance inverse polymerase chain reaction are indispensable for the rapid identification and characterization of rare MLL rearrangements.
authors.affiliation: Hematology-Oncology Pediatric Program, CPq Instituto Nacional de Câncer, Rio de Janeiro, RJ20231-050, Brazil.
authors.forename: Virginia M
authors.initials: VM
authors.lastname: Cóser
authors.forename: Claus
authors.initials: C
authors.lastname: Meyer
authors.forename: Rosania
authors.initials: R
authors.lastname: Basegio
authors.forename: Juliane
authors.initials: J
authors.lastname: Menezes
authors.forename: Rolf
authors.initials: R
authors.lastname: Marschalek
authors.forename: Maria S
authors.initials: MS
authors.lastname: Pombo-de-Oliveira
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D060588:LIM Domain Proteins; D007938:Leukemia / Q000235:genetics*; D008297:Male; D005810:Multigene Family / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C497422:KMT2A protein, human; D060588:LIM Domain Proteins; D009124:Muscle Proteins; C486890:NEBL protein, human; D015514:Oncogene Proteins, Fusion; C035620:nebulin; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase