Molecular and cellular markers for measurable residual disease in acute lymphoblastic leukemia
Gerardo Juárez-Avendaño1, Nereida Méndez-Ramírez2, Nuria C Luna-Silva3
1Laboratorio Juárez, Medicina de Laboratorio Clínico de Alta Especialidad, Biología Molecular e Investigación Clínica, Oaxaca de Juárez, Oaxaca. Mexico.
Insights
Detecting minimal residual disease (MRD) in childhood acute leukemia is crucial for improving survival rates. Advanced lab techniques like next-generation sequencing offer better prognostic insights for pediatric cancer patients globally.
Area of Science:
- Pediatric Oncology
- Hematologic Malignancies
- Laboratory Diagnostics
Background:
- Acute leukemia is a leading cause of childhood mortality worldwide, especially in developing nations.
- Late diagnosis, malnutrition, and treatment toxicity negatively impact survival in vulnerable populations.
- Accurate classification and treatment response monitoring are vital prognostic factors.
Purpose of the Study:
- To review scientific and technological advancements in laboratory diagnosis for minimal/measurable residual disease (MRD) detection.
- To highlight the significance of MRD in managing hematologic malignancies and improving remission rates.
- To discuss the role of MRD in stratifying pediatric cancer patients, particularly in resource-limited settings.
Main Methods:
- Review of multiparametric immunophenotyping techniques.
- Discussion of next-generation sequencing (NGS) applications in MRD detection.
- Exploration of cytomics and other advanced laboratory diagnostic tools.
Main Results:
- Ultrasensitive MRD detection is a milestone in managing hematologic malignancies.
- Combined molecular and cellular marker strategies offer superior leukemia detection.
- These advanced methods improve the management of complete remission cases.
Conclusions:
- Multidisciplinary research has yielded powerful tools for residual leukemia detection.
- MRD detection strategies are essential for patient stratification in vulnerable regions.
- Combining molecular analysis and cellular markers represents the current paradigm for MRD assessment.
Abstract:
Acute leukemia is the leading cause of death in children worldwide, particularly in developing countries where the growing number of cases with unfavorable prognosis and high risk of early relapse have positioned pediatric cancer as a priority. The late and imprecise diagnosis, malnutrition and unfavorable environmental conditions, and toxicity-associated therapy are some of the factors that compromise the success of the treatment and affect survival rates in vulnerable regions. An early and exhaustive classification of malignant neoplasms at the clinical debut and the proper follow-up of treatment's response constitute one of the most powerful prognostic factors. Remarkably, the ultrasensitive detection of residual and relapse clones that determine the minimal/measurable residual disease (MRD) has been a milestone in the comprehensive management of hematologic malignancies that favorably improve the complete remission cases. In this review, we discuss the scientific and technological advances applied to laboratory diagnosis in MRD determination: from the multiparametric immunophenotyping to next-generation sequencing and cytomics. As a result of multidisciplinary research in the main concentration oncology centers and laboratories, residual leukemia detection strategies that combine molecular analysis and cellular markers are recommended as the most valuable tools, making them the paradigm for stratification campaigns in vulnerable regions.
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