title: Six cases of rare gene amplifications and multiple copy of fusion gene in childhood acute lymphoblastic leukemia.
abstract: Cytogenetic aberrations are very important factors in risk assessment of childhood hematological malignancies. We report six childhood acute lymphoid leukemia (ALL) cases with rare cytogenetic aberrations: five with RUNX1, ABL1 or MLL proto-oncogene amplification and one case of multiple copies of ETV6/RUNX1 fusion genes. The simultaneous presence of two adverse genetic aberrations is of special interest: ETV6-RUNX1 fusion gene is associated with good prognosis and intrachromosomal amplification of the homologue RUNX1 gene is associated with poor prognosis. We also report a patient with MLL amplification, a unique finding in childhood T-ALL. Report of these subtle rearrangements contributes to our understanding of diagnostic and prognostic significance of these rare cytogenetic abnormalities.
authors.affiliation: 2nd Department of Pediatrics, Faculty of Medicine, Semmelweis University, 1094 Budapest, Tűzoltó utca 7-9, Hungary. haltrich.iren@med.semmelweis-univ.hu
authors.forename: Irén
authors.initials: I
authors.lastname: Haltrich
authors.forename: Monika
authors.initials: M
authors.lastname: Csóka
authors.forename: Gábor
authors.initials: G
authors.lastname: Kovács
authors.forename: Dóra
authors.initials: D
authors.lastname: Török
authors.forename: Donát
authors.initials: D
authors.lastname: Alpár
authors.forename: Gábor
authors.initials: G
authors.lastname: Ottoffy
authors.forename: György
authors.initials: G
authors.lastname: Fekete
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D050939:Gene Fusion; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D011495:Histone-Lysine N-Methyltransferase; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion; D000090063:Proto-Oncogene Mas; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C497422:KMT2A protein, human; C000715470:MAS1 protein, human; C493728:RUNX1 protein, human