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Cytogenetic aberration in mixed-phenotype acute leukemia in children: A single-center retrospective review
Tsung-Yen Chang1, Shih-Hsiang Chen1, Tang-Her Jaing1
1Divisions of Hematology and Oncology, Department of Pediatrics, Chang Gung Children's Hospital, Chang Gung University, Taoyuan, Taiwan.
Background:
Mixed-phenotype acute leukemia (MPAL) poses a diagnostic and therapeutic dilemma. No consensus exists on the strategy to assign patients with MPAL to either lymphoid- or myeloid-directed treatment. Thus, a better understanding of the characteristics of MPAL is a crucial unmet need. This study aims to provide information on a population-based cohort of children who received treatment based on standard, simple immunophenotypic criteria.
Methods:
Single-center, retrospective clinical and laboratory reviews of patients with MPAL were provided by morphology, immunophenotyping, cytogenetics, and molecular methods. We identified 242 flow cytometry samples. Of all consecutive pediatric patients with acute leukemia, we identified 8 (3.3%) patients with MPAL fulfilling WHO 2016 criteria; these were classified as follows: B-lymphoid + myeloid (n = 4), T-lymphoid + myeloid (n = 2), and B + T-lymphoid (n = 2).
Results:
Of 8 MPAL cases, 4 were boys and 4 girls [median age at diagnosis: 10.8 (range 1.1-17) years]. The b3a2 (p210) and e1a2 (p190) BCR/ABL fusion transcripts were detected in 1 patient with B/myeloid MPAL. Regarding the morphology, all patients were initially diagnosed as acute lymphoblastic leukemia, but no morphological characteristics or cytogenetic aberration was particularly predictive of an MPAL. Furthermore, 4 of 8 patients (50%) with MPAL were associated with chromosome 21 monosomy or partial trisomy.
Conclusion:
Despite no single recurrent chromosomal abnormality that could serve as a hallmark lesion in MPAL, cytogenetic alterations are frequent and predominantly associated with complex karyotype involving chromosome 21 abnormalities.
Insights
Mixed-phenotype acute leukemia (MPAL) in children presents diagnostic challenges. This study found chromosome 21 abnormalities in 50% of MPAL cases, highlighting their importance in understanding this rare leukemia.
Area of Science:
- Pediatric Hematology
- Oncology
- Leukemia Research
Background:
- Mixed-phenotype acute leukemia (MPAL) presents diagnostic and therapeutic challenges.
- Lack of consensus on treatment strategies for MPAL necessitates further understanding.
- This study addresses the unmet need for data on MPAL characteristics.
Purpose of the Study:
- To characterize a population-based cohort of pediatric MPAL patients.
- To analyze immunophenotypic, cytogenetic, and molecular features of MPAL.
- To provide insights into MPAL diagnosis and potential therapeutic targets.
Main Methods:
- Retrospective review of clinical and laboratory data from pediatric MPAL patients.
- Utilized morphology, immunophenotyping, cytogenetics, and molecular methods.
- Identified 8 pediatric MPAL cases (3.3%) based on WHO 2016 criteria.
Main Results:
- Four MPAL cases were B-lymphoid + myeloid, two T-lymphoid + myeloid, and two B + T-lymphoid.
- One case showed BCR/ABL fusion transcripts (B/myeloid MPAL).
- Fifty percent of MPAL cases (4/8) had chromosome 21 abnormalities (monosomy or partial trisomy).
Conclusions:
- No single recurrent chromosomal abnormality defines MPAL.
- Cytogenetic alterations are frequent in MPAL, often involving chromosome 21.
- Further research is needed to refine MPAL diagnosis and treatment strategies.
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