C-group chromosome abnormalities in bone marrow cells of three children with dyshematopoiesis of unknown origin
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This study details bone marrow aneuploidy in children, including monosomy 7 in myelofibrosis and trisomy 8 in aplastic anemia and myeloproliferative disorders. Cytogenetic analysis revealed clonal evolution in one case.
Area of Science:
- Pediatric Hematology
- Clinical Cytogenetics
- Oncology
Background:
- Dyshaematopoiesis and bone marrow aneuploidy are complex hematological conditions.
- Understanding chromosomal abnormalities is crucial for diagnosing and managing pediatric blood disorders.
Observation:
- Three children with dyshaematopoiesis and bone marrow aneuploidy were analyzed.
- Case 1: A 10-year-old boy with myelofibrosis showed monosomy 7.
- Case 2: A 5.5-year-old girl with aplastic anemia had trisomy 8, which later resolved.
- Case 3: An 8-year-old girl with a myeloproliferative disorder and collagen-vascular disease exhibited trisomy 8 with clonal evolution.
Findings:
- Monosomy 7 was identified in immature cells of a boy with myelofibrosis, thrombocytopenia, and anemia.
- Trisomy 8 was present in a significant proportion of bone marrow cells in two girls with different hematological conditions.
- One patient with trisomy 8 showed clonal evolution with a translocation (8;17) during disease progression.
Implications:
- Cytogenetic analysis is vital for characterizing pediatric hematological malignancies and precursor conditions.
- The dynamic nature of trisomy 8 suggests potential for spontaneous resolution or disease modification.
- Clonal evolution in bone marrow aneuploidy highlights the importance of serial monitoring in pediatric oncology.
Abstract:
Clinical and cytogenetic findings in three children with dyshaematopoiesis and bone marrow aneuploidy are described. Monosomy 7 was found in immature cells of one 10-year-old boy with myelofibrosis following a 3 years evolution of severe thrombocytopenia and anaemia. Trisomy 8 was found in 80% of the bone marrow metaphases of a 5 1/2-year-old girl with aplastic anaemia and Australia antigen positivity. During a 3 year observation period the number of cells with trisomy 8 regressed and eventually disappeared. Improvement of her clinical condition is present but still limited. Trisomy 8 was also found in all bone marrow cells of an 8-year-old girl with an undefined myeloproliferative disorder. Her disease was apparently related to collagen-vascular disorders like periarteritis or other necrotizing angiitis and presented with periods of exacerbation and periods of chronic evolution. Periods of exacerbation were accompanied by excessive myeloid proliferation. Repeated bone marrow cytogenetic analysis during the acute and chronic phases showed trisomy 8 in all the metaphases analysed. During the last episode of acute illness, further clonal evolution was observed, characterized by a translocation (8;17).