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5q- syndrome in a child
A Uyttebroeck1, P Brock, B De Groote
1Department of Pediatrics, Catholic University of Leuven, Belgium.
Cancer Genetics and Cytogenetics
|April 1, 1995
Summary
This study reports the youngest patient with 5q- syndrome, a rare genetic disorder. The child developed acute leukemia, highlighting potential differences in pediatric 5q- syndrome and its treatment outcomes.
Area of Science:
- Hematology
- Genetics
- Pediatric Oncology
Background:
- The 5q- syndrome is a rare chromosomal disorder typically affecting adults, characterized by a deletion on the long arm of chromosome 5.
- It is associated with various hematological abnormalities, including anemia and an increased risk of developing acute myeloid leukemia (AML).
Observation:
- A pediatric case of 5q- syndrome is presented in an 8-year, 10-month-old boy with refractory anemia and characteristic bone marrow findings.
- Cytogenetic analysis confirmed a de novo deletion on chromosome 5 (del(5)(q14q32)), representing the youngest reported individual with this condition.
Findings:
- The patient showed disease progression despite treatment with human recombinant erythropoietin, with the development of excess blasts in the bone marrow.
- Within a year of diagnosis, the condition transformed into acute myelomonocytic leukemia, leading to the child's death despite intensive chemotherapy.
Implications:
- This case highlights that 5q- syndrome can occur de novo in children, challenging the notion that it is exclusively an adult disorder.
- The poor outcome in this pediatric patient may suggest differences in disease progression or treatment response compared to adult 5q- syndrome, with a potential role of erythropoietin therapy to be investigated.