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Acute lymphoblastic leukemia and chromosome 21
1Institute of Molecular Genetics, INSERM/CNRS, Paris, France.
Cancer Genetics and Cytogenetics
|March 1, 1997
Summary
Chromosome 21 abnormalities, including trisomy and the TEL-AML1 fusion gene, are significant in acute lymphoblastic leukemia (ALL). These genetic alterations highlight chromosome 21's role in leukemogenesis.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Chromosome 21 abnormalities are frequently observed in acute lymphoblastic leukemia (ALL).
- Constitutional trisomy 21 is associated with a high incidence of acute leukemia.
- Specific chromosomal rearrangements involving chromosome 21 play a role in leukemogenesis.
Purpose of the Study:
- To review the role of chromosome 21 abnormalities in acute lymphoblastic leukemia (ALL).
- To highlight the significance of specific genetic alterations in ALL pathogenesis.
Main Methods:
- Review of existing literature on chromosome 21 abnormalities in ALL.
- Discussion of cytogenetic and molecular findings, including trisomy, polysomy, and translocations.
- Emphasis on the utility of fluorescence in situ hybridization (FISH) for detecting marker chromosomes.
Main Results:
- Trisomy and polysomy 21 are nonrandom anomalies frequently found in ALL.
- The translocation t(12;21)(p13;q22), forming the TEL-AML1 fusion gene, is the most common translocation in childhood B-cell ALL (20-30% of cases).
- Partial amplifications or rearrangements of chromosome 21 are implicated in ALL.
Conclusions:
- Chromosome 21 plays a particular role in leukemogenesis.
- Analysis of marker chromosomes using FISH is crucial for understanding chromosome 21's involvement in ALL.
- Specific genetic abnormalities on chromosome 21 are important diagnostic and prognostic indicators in ALL.