J Korean Med Sci.  2005 Feb;20(1):36-41. 10.3346/jkms.2005.20.1.36.

Molecular Cytogenetic Analysis of Gene Rearrangements in Childhood Acute Lymphoblastic Leukemia

  • 1Department of Laboratory Medicine, Sungkyunkwan University, School of Medicine, Seoul, Korea. sunnyhk@smc.samsung.co.kr
  • 2Department of Pediatric Oncology, Sungkyunkwan University, School of Medicine, Seoul, Korea.
  • 3Department of Hematology, Sungkyunkwan University, School of Medicine, Seoul, Korea.


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.


In Situ Hybridization, Fluorescence; Leukemia, Lymphocytic, Acute; Childhood; Gene Rear-rangements

MeSH Terms

Child, Preschool
*Chromosome Aberrations
Chromosome Banding
DNA-Binding Proteins/*genetics
Fusion Proteins, bcr-abl/*genetics
Gene Deletion
*Gene Rearrangement
In Situ Hybridization, Fluorescence
Leukemia, Lymphocytic, Acute/*genetics
Oncogene Proteins, Fusion/*genetics
Protein p16/*genetics
Transcription Factors/*genetics
Treatment Outcome


  • Fig. 1 Abnormal signal patterns in FISH analysis. (A) One ABL gene locus is deleted and both BCR genes are present as indicated by one orange and two green signals (1O2G), respectively. (B) Only one fusion signal indicating deletion of one MLL gene. (C) Two TEL/AML1 fusion signals (2O1G2F) indicating double fusion genes. (D) A TEL/AML1 fusion with TEL deletion (2O1F). (E) TEL/AML1 fusion with AML1 deletion (1O1G1F). (F) More than five orange signals indicating AML1 gene amplification are present. (G) A nucleus containing p16 hemizygous deletion showing one orange and two green signals (1O2G). (H) A nucleus containing p16 homozygous deletion showing two green signals without orange signals (2G).


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