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Down's syndrome and mixed acute leukemia in infants
L Penchansky1, S S Kaplan, V Stolc
1Department of Pathology, University of Pittsburgh, Pennsylvania.
Cancer
|July 15, 1991
Summary
Children with Down syndrome (DS) can develop biphenotypic acute leukemia, a rare form co-expressing myeloid and T-cell markers. This study highlights the importance of comprehensive immunophenotyping in diagnosing leukemia in DS patients.
Area of Science:
- Hematology
- Oncology
- Immunology
Background:
- The French-American-British (FAB) classification for leukemia has been enhanced by monoclonal antibody panels, identifying mixed acute leukemia.
- Children with Down syndrome (DS) exhibit a higher incidence of acute leukemia, with existing research focusing primarily on cytogenetic findings.
- Immunophenotypic analysis in DS leukemia has often been limited to lymphoid markers, leaving a gap in understanding myeloid and mixed phenotypes.
Observation:
- Two children with Down syndrome (DS) presented with acute leukemia.
- Leukemic blasts were analyzed using a panel of 17 monoclonal antibodies (myeloid, lymphoid, and megakaryocytic) via flow cytometry.
- The blast population demonstrated coexpression of myeloid and T-cell surface markers.
Findings:
- The leukemic blasts in both children with DS were classified as biphenotypic acute leukemia.
- Coexpression of myeloid and T-cell surface markers was confirmed.
- Lymphoid origin was excluded through negative terminal deoxynucleotidyl transferase and molecular analysis of JH and beta TCR genes in germline configuration.
Implications:
- This study underscores the necessity of detailed immunophenotyping, including myeloid and lymphoid markers, for accurate leukemia classification in children with Down syndrome.
- Recognizing biphenotypic acute leukemia in DS patients is crucial for appropriate diagnosis and potential therapeutic strategies.
- Further research into the immunophenotypic spectrum of leukemia in Down syndrome is warranted.