title: Molecular cytogenetic analysis of gene rearrangements in childhood acute lymphoblastic leukemia.
abstract: The aims of this study were to estimate the incidences of BCR/ABL, MLL, TEL/AML1 rearrangements, and p16 deletions in childhood acute lymphoblastic leukemia (ALL), to identify new abnormalities, and to demonstrate the usefulness of interphase fluorescence in situ hybridization (FISH). We performed G-banding analysis and FISH using probes for BCR/ABL, MLL, TEL/AML1 rearrangements, and p16 deletions on 65 childhood ALL patients diagnosed and uniformly treated at a single hospital. Gene rearrangements were identified in 73.8% of the patients using the combination of G-banding and FISH, while the chromosomal abnormalities were identified in 49.2% using G-banding alone. Gene rearrangements were disclosed by FISH in 24 (72.7%) of 33 patients with normal karyotype or no mitotic cell in G-banding. Among the gene rearrangements detected by FISH, the most common gene rearrangement was p16 deletion (20.3%) and the incidences of others were 14.1% for TEL/AML1, 11.3% for MLL, and 1.8% for BCR/ABL translocations. Infrequent or new aberrations such as AML1 amplification, MLL deletion, ABL deletion, and TEL/AML1 fusion with AML1 deletion were also observed. We established the rough incidences of gene rearrangements in childhood ALL, found new abnormalities and demonstrated the diagnostic capability of interphase FISH to identify cryptic chromosome aberrations.
authors.affiliation: Department of Laboratory Medicine, Sungkyunkwan University, School of Medicine, Seoul, Korea.
authors.forename: Hee Yeon
authors.initials: HY
authors.lastname: Woo
authors.forename: Dae Won
authors.initials: DW
authors.lastname: Kim
authors.forename: Hyosoon
authors.initials: H
authors.lastname: Park
authors.forename: Ki Woong
authors.initials: KW
authors.lastname: Seong
authors.forename: Hong Hoe
authors.initials: HH
authors.lastname: Koo
authors.forename: Sun Hee
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D050676:Core Binding Factor Alpha 2 Subunit; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D017353:Gene Deletion; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007399:Interphase; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011519:Proto-Oncogenes / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D016896:Treatment Outcome; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004268:DNA-Binding Proteins; D016044:Fusion Proteins, bcr-abl; D011495:Histone-Lysine N-Methyltransferase; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors; C497422:KMT2A protein, human; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein
references.citation: Hematol Oncol. 1999 Sep;17(3):91-105
references.pmid: 10641030
references.citation: Br J Haematol. 1999 Dec;107(3):667-9
references.pmid: 10583273
references.citation: Eur J Haematol. 2000 Jul;65(1):40-51
references.pmid: 10914938
references.citation: Blood. 2001 Jan 15;97(2):572-4
references.pmid: 11154239
references.citation: Genes Chromosomes Cancer. 2001 Apr;30(4):407-9
references.pmid: 11241794
references.citation: Cancer Genet Cytogenet. 2001 Apr 1;126(1):73-7
references.pmid: 11343784
references.citation: Leuk Lymphoma. 2000 Dec;40(1-2):39-47
references.pmid: 11426627
references.citation: Leukemia. 2001 Sep;15(9):1442-7
references.pmid: 11516105
references.citation: Br J Haematol. 2001 Sep;114(4):786-93
references.pmid: 11564064
references.citation: Genes Chromosomes Cancer. 2001 Nov;32(3):244-9
references.pmid: 11579464
references.citation: Eur J Haematol. 2002 Jan;68(1):31-41
references.pmid: 11952819
references.citation: Cancer Genet Cytogenet. 2003 Jan 1;140(1):58-61
references.pmid: 12550760
references.citation: Genes Chromosomes Cancer. 1993 Aug;7(4):204-8
references.pmid: 7692945
references.citation: Br J Cancer. 1996 Feb;73(4):420-3
references.pmid: 8595153
references.citation: Blood. 1996 Apr 1;87(7):2891-9
references.pmid: 8639909
references.citation: Blood. 1996 Aug 1;88(3):785-94
references.pmid: 8704231
references.citation: Blood. 1996 Dec 1;88(11):4252-8
references.pmid: 8943861
references.citation: Blood. 1997 Feb 15;89(4):1143-6
references.pmid: 9028935
references.citation: Cancer Res. 1997 Mar 1;57(5):907-12
references.pmid: 9041193
references.citation: Blood. 1997 Jun 1;89(11):4161-6
references.pmid: 9166859
references.citation: Blood. 1997 Jul 15;90(2):571-7
references.pmid: 9226156
references.citation: Leukemia. 1997 Sep;11(9):1459-64
references.pmid: 9305598
references.citation: Br J Haematol. 1997 Oct;99(1):240-1
references.pmid: 9359534
references.citation: Leukemia. 1998 May;12(5):823-7
references.pmid: 9593287
references.citation: Leukemia. 1998 Jun;12(6):845-59
references.pmid: 9639410
references.citation: Int J Oncol. 1998 Dec;13(6):1319-22
references.pmid: 9824651
references.citation: Blood. 1999 Aug 1;94(3):1057-62
references.pmid: 10419898
references.citation: Genes Chromosomes Cancer. 1999 Mar;24(3):272-7
references.pmid: 10451708
references.citation: Blood. 1999 Sep 1;94(5):1537-44
references.pmid: 10477677
references.citation: Leukemia. 1999 Sep;13(9):1325-30
references.pmid: 10482981
references.citation: Haematologica. 2000 Apr;85(4):362-6
references.pmid: 10756360