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Assessment of the Metabolic Profile of Primary Leukemia Cells
Published on: November 21, 2018
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Aleukaemic leukaemia presenting with pathological fracture
Gilbert T Chua1, Kam Ching Chow2, Jason Chi Chiu So3
1Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong.
BMJ Case Reports
|July 4, 2014
Summary
A rare case of precursor B-cell acute lymphoblastic leukemia was diagnosed in a young girl presenting with a bone fracture. Cytogenetic analysis confirmed the diagnosis, revealing a hyperdiploid clone.
Area of Science:
- Pediatric Oncology
- Hematology
- Cytogenetics
Background:
- Acute lymphoblastic leukemia (ALL) is a common childhood cancer.
- Early diagnosis is crucial for effective treatment and improved outcomes.
- Diagnostic challenges can arise in atypical presentations.
Observation:
- A 19-month-old girl presented with a pathological fracture of the distal tibia.
- Initial peripheral blood, electrolytes, and bone biopsy were unremarkable for malignancy.
- Bone marrow morphology and immunohistochemistry were inconclusive for acute leukemia.
Findings:
- Cytogenetic study definitively diagnosed precursor B-cell acute lymphoblastic leukemia.
- The leukemia clone exhibited hyperdiploidy with trisomies, including gain of chromosome 4.
- This confirmed the diagnosis despite initial ambiguous findings.
Implications:
- Highlights the importance of advanced cytogenetic studies in diagnosing pediatric ALL.
- Underscores the need for comprehensive diagnostic approaches in challenging cases.
- Provides insights into the genetic landscape of pediatric precursor B-cell ALL.
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