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der(3)t(3;5). Another recurring abnormality in myelodysplastic disorder
V Lindgren1, L Gibson, T L Yang-Feng
1Department of Human Genetics, Yale University, New Haven, CT 06510.
Cancer Genetics and Cytogenetics
|July 1, 1991
Summary
Monosomy 5q, a common abnormality in therapy-related acute nonlymphocytic leukemia and myelodysplastic syndrome, can arise from deletions or translocations. This study identifies a novel derivative chromosome 3 abnormality in myelodysplastic syndrome.
Area of Science:
- Cytogenetics
- Hematology
- Oncology
Background:
- Monosomy for chromosome 5 or its long arm (5q) is frequently observed in acute nonlymphocytic leukemia (ANLL) and myelodysplastic syndrome (MDS).
- This chromosomal abnormality is particularly prevalent in therapy-related cases of ANLL and MDS.
- Loss of 5q material typically occurs via interstitial deletions, often affecting bands q12-14 to q31-33.
Observation:
- Monosomy 5q can also result from translocations, where a derivative chromosome containing 5q is lost.
- A previously documented recurring abnormality involves an unbalanced translocation between chromosomes 5 and 7: der(5)t(5;7)(q11.2;p11.2).
- This report details four cases of MDS, including therapy-related and potentially therapy-related instances.
Findings:
- Two cases exhibited a "variant" 5q abnormality, specifically a derivative chromosome 3.
- This derivative chromosome 3, denoted as der(3)t(3;5)(?p11;?p11), comprises most of the short arm of chromosome 5 and the long arm of chromosome 3.
- The study identifies this der(3)t(3;5) as a novel chromosomal abnormality associated with MDS.
Implications:
- The identification of novel chromosomal aberrations like der(3)t(3;5) contributes to a deeper understanding of MDS pathogenesis.
- Recognizing variant 5q abnormalities is crucial for accurate diagnosis and risk stratification in MDS patients.
- Further research into the clinical significance and molecular mechanisms of these variant translocations is warranted.