Molecular Cytogenetic Analysis of Gene Rearrangements in Childhood Acute Lymphoblastic Leukemia.
10.3346/jkms.2005.20.1.36
- Author:
Hee Yeon WOO
1
;
Dae Won KIM
;
Hyosoon PARK
;
Ki Woong SEONG
;
Hong Hoe KOO
;
Sun Hee KIM
Author Information
1. Department of Laboratory Medicine, Sungkyunkwan University, School of Medicine, Seoul, Korea. sunnyhk@smc.samsung.co.kr
- Publication Type:Original Article
- Keywords:
In Situ Hybridization, Fluorescence;
Leukemia, Lymphocytic, Acute;
Childhood;
Gene Rear-rangements
- MeSH:
Adolescent;
Child;
Child, Preschool;
*Chromosome Aberrations;
Chromosome Banding;
DNA-Binding Proteins/*genetics;
Female;
Fusion Proteins, bcr-abl/*genetics;
Gene Deletion;
*Gene Rearrangement;
Humans;
In Situ Hybridization, Fluorescence;
Infant;
Interphase;
Leukemia, Lymphocytic, Acute/*genetics;
Male;
Oncogene Proteins, Fusion/*genetics;
Protein p16/*genetics;
Proto-Oncogenes/*genetics;
Transcription Factors/*genetics;
Treatment Outcome
- From:Journal of Korean Medical Science
2005;20(1):36-41
- CountryRepublic of Korea
- Language:English
-
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.
