PMID- 15716599 OWN - NLM STAT- MEDLINE DCOM- 20050711 LR - 20190816 IS - 1011-8934 (Print) IS - 1598-6357 (Electronic) IS - 1011-8934 (Linking) VI - 20 IP - 1 DP - 2005 Feb TI - Molecular cytogenetic analysis of gene rearrangements in childhood acute lymphoblastic leukemia. PG - 36-41 AB - 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. FAU - Woo, Hee Yeon AU - Woo HY AD - Department of Laboratory Medicine, Sungkyunkwan University, School of Medicine, Seoul, Korea. FAU - Kim, Dae Won AU - Kim DW FAU - Park, Hyosoon AU - Park H FAU - Seong, Ki Woong AU - Seong KW FAU - Koo, Hong Hoe AU - Koo HH FAU - Kim, Sun Hee AU - Kim SH LA - eng PT - Journal Article PL - Korea (South) TA - J Korean Med Sci JT - Journal of Korean medical science JID - 8703518 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Cyclin-Dependent Kinase Inhibitor p16) RN - 0 (DNA-Binding Proteins) RN - 0 (KMT2A protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TEL-AML1 fusion protein) RN - 0 (Transcription Factors) RN - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein) RN - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase) RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Adolescent MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - Chromosome Banding MH - Core Binding Factor Alpha 2 Subunit MH - Cyclin-Dependent Kinase Inhibitor p16/*genetics MH - DNA-Binding Proteins/*genetics MH - Female MH - Fusion Proteins, bcr-abl/*genetics MH - Gene Deletion MH - *Gene Rearrangement MH - Histone-Lysine N-Methyltransferase MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Interphase MH - Male MH - Myeloid-Lymphoid Leukemia Protein MH - Oncogene Proteins, Fusion/*genetics MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - Proto-Oncogenes/*genetics MH - Transcription Factors/*genetics MH - Treatment Outcome PMC - PMC2808572 EDAT- 2005/02/18 09:00 MHDA- 2005/07/12 09:00 PMCR- 2005/02/01 CRDT- 2005/02/18 09:00 PHST- 2005/02/18 09:00 [pubmed] PHST- 2005/07/12 09:00 [medline] PHST- 2005/02/18 09:00 [entrez] PHST- 2005/02/01 00:00 [pmc-release] AID - 200502036 [pii] AID - 10.3346/jkms.2005.20.1.36 [doi] PST - ppublish SO - J Korean Med Sci. 2005 Feb;20(1):36-41. doi: 10.3346/jkms.2005.20.1.36.