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Specific translocation t(4;11) in an infant with acute lymphoblastic leukaemia of null cell type
Insights
This case study details infant acute lymphoblastic leukemia with a t(4;11) translocation. The abnormal clone persisted even during remission, highlighting the importance of chromosomal analysis in diagnosing and classifying hematologic neoplasms.
Area of Science:
- Hematology
- Cytogenetics
- Pediatric Oncology
Background:
- Acute lymphoblastic leukemia (ALL) is a significant hematologic malignancy in infants.
- The reciprocal translocation t(4;11)(q21;q23) is a rare but specific chromosomal abnormality observed in certain ALL cases.
- Infantile ALL presents unique diagnostic and prognostic challenges.
Observation:
- A case of infant null cell acute lymphoblastic leukemia with the t(4;11) translocation was analyzed.
- Abnormal metaphase proportions correlated with clinical status, persisting even during remission.
- Cytogenetic analysis revealed the abnormal clone's expansion into peripheral blood.
Findings:
- The t(4;11) translocation was identified in an infant with acute lymphoblastic leukemia.
- Persistent abnormal metaphases were detected despite short-term remission.
- Comparative cytogenetic analyses demonstrated the spread of the abnormal clone.
Implications:
- Chromosomal abnormalities are crucial for accurate diagnosis and classification of hematologic neoplasms.
- Understanding translocation patterns aids in prognostic assessment for infant ALL.
- Cytogenetic monitoring provides insights into disease progression and clone behavior.
Abstract:
A case of acute lymphoblastic leukaemia of null cell type in infancy showed the specific reciprocal translocation t(4;11) (q21;q23) reported 16 times so far in the world literature. The proportions of abnormal and normal metaphases throughout the course of the illness correlated well with the clinical picture, but even during the short term remission metaphases expressing the translocation were still identifiable in appreciable numbers. Comparison between cytogenetic analyses of cultured and native bone marrow, PHA-stimulated and non-stimulated peripheral blood demonstrated the gradual conquest of the periphery by the abnormal clone. The importance of chromosomal changes and their interpretation for diagnosis, classification and prognostic judgment in haemotologic neoplasms is discussed in the light of the reported case.