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Childhood acute megakaryoblastic leukemia with internalization of hemic cells
Abstract:
Two atypical cases of acute megakaryoblastic leukemia (AMKL) in infants diagnosed by immunophenotying are described. In both cases, the leukemic cells at diagnosis resembled monoblasts with reniform nuclei, fine reticular chromatin, and abundant grey-blue cytoplasm with pseudopods. In addition, these blasts frequently showed internalization of hemic cells. Therefore, the diagnosis of acute monocytic leukemia (AMOL) or malignant histiocytosis (MH) was initially suggested. However, alpha-naphthyl butyrate esterase stain was negative and immunologic studies determined megakaryocytic lineage of the blasts. Our observation in two consecutive cases of AMKL implies that there is a potential risk of misdiagnosing AMKL as AMOL or MH in infants. The incidence and significance of internalization of hemic cells by blast cells of AMKL in infancy are unknown and we cannot be certain whether these cases constitute a subgroup of AMKL in infancy.
Insights
Two infant acute megakaryoblastic leukemia (AMKL) cases were misdiagnosed due to cell morphology resembling acute monocytic leukemia. Immunophenotyping confirmed AMKL, highlighting diagnostic challenges in infants.
Area of Science:
- Hematology
- Pediatric Oncology
- Cell Biology
Background:
- Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia.
- Infantile AMKL presents unique diagnostic challenges due to atypical morphology.
Observation:
- Described two infants with AMKL exhibiting leukemic cells resembling monoblasts.
- Cells showed reniform nuclei, fine chromatin, abundant cytoplasm, pseudopods, and hemic cell internalization.
- Initial diagnosis considered acute monocytic leukemia (AMOL) or malignant histiocytosis (MH) based on morphology.
Findings:
- Alpha-naphthyl butyrate esterase stain was negative in both cases.
- Immunologic studies definitively determined the megakaryocytic lineage of the blasts.
- Confirmed diagnosis of AMKL in both infants despite initial morphological confusion.
Implications:
- Highlights the potential for misdiagnosing infantile AMKL as AMOL or MH.
- Suggests atypical morphology and hemic cell internalization in AMKL require careful immunophenotypic evaluation.
- The significance of hemic cell internalization in infantile AMKL remains to be elucidated, potentially indicating a distinct subgroup.