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Updated: Aug 13, 2026
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Acute basophilic leukaemia and translocation t(X;6)(p11;q23)
N Dastugue1, E Duchayne, E Kuhlein
1Laboratoire d'Hématologie, CHU, Toulouse, France.
Insights
Two infants with acute basophilic leukemia, a rare leukemia subtype, were found to have a specific chromosomal abnormality, t(X;6)(p11;q23). This finding suggests a potential link between this genetic change and the disease, especially in infants.
Area of Science:
- Hematology
- Genetics
- Pediatric Oncology
Background:
- Acute basophilic leukemia (ABL) is a rare and aggressive subtype of acute leukemia.
- The genetic underpinnings and distinct clinical presentations of ABL remain incompletely understood.
- Infantile leukemia presents unique diagnostic and therapeutic challenges.
Observation:
- Two infants presented with acute basophilic leukemia.
- Both patients exhibited a t(X;6)(p11;q23) chromosomal translocation as the sole genetic abnormality.
- Morphological analysis confirmed basophilic lineage via light and electron microscopy.
Findings:
- The identified chromosomal abnormality, t(X;6)(p11;q23), appears to be non-randomly associated with ABL in infants.
- Patients displayed a consistent clinical syndrome suggestive of hyperhistaminemia, including urticarial rashes and gastrointestinal issues.
- Immunophenotypic analysis showed variability, with one patient expressing CD24, CD13, and CD33, and the other expressing CD117.
Implications:
- This study identifies a potential new entity of infantile acute basophilic leukemia characterized by t(X;6)(p11;q23).
- The distinct clinical presentation may aid in earlier diagnosis of this rare leukemia.
- Further research into the pathobiology of ABL and its association with t(X;6)(p11;q23) is warranted.
Abstract:
We report two infants with acute basophilic leukaemia associated with a t(X;6)(p11;q23) as the sole abnormality. Morphologic evidence of basophilic lineage was provided by light and electron microscopy. Both patients also had a similar presentation on diagnosis, characterized by clinical signs consistent with a hyperhistaminaemia syndrome, i.e. urticarian rashes and gastro-intestinal disorders evocative of peptic ulcer. Immunophenotypes differed in the two patients, one expressing CD24, CD13 and CD33, whereas only CD117 was found in the other. Basophilic acute leukaemia, a rare group among acute leukaemias, might be nonrandomly associated with a specific chromosomal abnormality, t(X;6)(p11;q23). This new entity might also be identifiable by an uncommon clinical presentation and occurrence in infancy.
