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Published on: March 26, 2018
Immunophenotypic patterns and cytogenetic anomalies in acute non-lymphoblastic leukemia subtypes: a prospective study
R O Casasnovas1, L Campos, F Mugneret
1Hématologie Clinique, CHU Le Bocage, Dijon, France.
Insights
Immunophenotypic markers like CD34 and CD9 predict chromosomal abnormalities in acute non-lymphoblastic leukemia (ANLL). Identifying these markers aids in diagnosing ANLL and guides further cytogenetic analysis for better patient outcomes.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Acute non-lymphoblastic leukemia (ANLL) is a heterogeneous disease.
- Understanding the interplay between blast cell immunophenotype and cytogenetics is crucial for accurate diagnosis and prognosis.
Purpose of the Study:
- To investigate the correlations between immunophenotypic and cytogenetic features in ANLL.
- To identify specific immunophenotypic markers predictive of cytogenetic abnormalities.
Main Methods:
- Prospective analysis of 432 ANLL cases at presentation.
- Utilized a consensual panel of monoclonal antibodies for immunophenotyping.
- Correlated immunophenotypic data with cytogenetic findings, including univariate and multivariate analyses.
Main Results:
- 54% of ANLL cases exhibited abnormal karyotypes.
- CD34 and CD9 expression were independently predictive of cytogenetic abnormalities.
- Specific immunophenotypic features were associated with distinct ANLL subtypes and chromosomal anomalies.
Conclusions:
- Immunophenotypic analysis, particularly CD34 and CD9 expression, can predict cytogenetic abnormalities in ANLL.
- These findings aid in guiding karyotypic examination and molecular analysis.
- Integration of immunophenotypic and cytogenetic data improves ANLL characterization.
Abstract:
This study prospectively analysed the relationships between immunophenotypic and cytogenetic features of blast cells in 432 acute non-lymphoblastic leukemias (ANLL) at presentation. An abnormal karyotype was detected in 232 cases (54%). These abnormalities were related to immunophenotypic markers as detected using a consensual panel of monoclonal antibodies allowing lineage assignment and investigation of myeloid marker expression on blast cells. In univariate analysis, CD9, CD10, CD15, CD34 and TdT expression appeared significantly associated with chromosomal anomalies. Multivariate analysis identified CD34 and CD9 expression as independently predictive of the presence of at least one cytogenetic abnormality (P < 10(-4) and P < 0.03, respectively). Significant associations between immunophenotypic and karyotypic features were observed both within individual FAB subgroups and independently from morphological criteria. Specific features were seen in five ANLL entities: M0 or M1/B lineage antigen positivity/t(9;22) or del(11)(q23); M2/CD13-/t(8;21); M4/CD13+, CD34+, CD36+/inv(16); M4 or M5/lack of B lineage antigen/del(11)(q23) or t(9;11). More practically, and although the relationships demonstrated only represent a fraction of homogeneous immunophenotypic subgroups, identification of such immunophenotypic features should prompt careful karyotypic examination, eventually using molecular biology analysis on non-growing cells.

