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Leukemia with a novel 4q11q rearrangement
Cancer Genetics and Cytogenetics
|April 1, 1985
Summary
A rare acute leukemia case in an infant presented with an unusual chromosome rearrangement. Instead of the typical translocation (4;11), an insertion involving chromosomes 4 and 11 was observed.
Area of Science:
- Genetics
- Hematology
- Oncology
Background:
- Translocation (4;11)(q21;q23) is a known genetic hallmark of a specific acute leukemia subtype.
- This chromosomal abnormality is associated with distinct clinical and biological features in leukemic patients.
Observation:
- An 8-week-old male infant exhibited clinical symptoms consistent with the syndrome typically caused by the t(4;11) translocation.
- However, cytogenetic analysis revealed an atypical chromosomal rearrangement.
Findings:
- The patient's leukemia featured an insertion of the 11q23 band into the q21 region of chromosome 4.
- This represents a novel variant of the characteristic t(4;11) acute leukemia.
Implications:
- This case expands the spectrum of chromosomal abnormalities associated with this acute leukemia subtype.
- Understanding these rare rearrangements is crucial for accurate diagnosis and potentially tailored therapeutic strategies in pediatric leukemia.
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