Early detection and better outcomes: molecular approaches in pediatric hematologic malignancies - a review

Pediatric hematologic malignancies, including acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and various lymphomas, remain among the most prevalent childhood cancers globally. While traditional diagnostic methods - such as morphology, cytochemistry, and immunophenotyping - have improved outcomes over recent decades, they often fail to capture the genetic heterogeneity and subtle prognostic nuances critical for personalized care. Recent advances in molecular diagnostics, including polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS), have transformed the diagnostic landscape. These tools enable the detection of key genetic alterations, support minimal residual disease (MRD) monitoring, and guide targeted therapeutic interventions. However, the adoption of these technologies in low-resource settings is challenged by infrastructural, economic, and logistical barriers. This review explores the molecular landscape of pediatric hematologic malignancies, assesses current diagnostic applications, and discusses challenges in resource-limited settings. We also propose actionable recommendations for clinicians, researchers, and policymakers, including strengthening cancer registries with molecular data, establishing regional diagnostic hubs, integrating molecular tools into frontline protocols, and fostering international collaborations to bridge global disparities. By aligning molecular innovation with implementation strategies, we can move toward more equitable and effective care for children affected by hematologic cancers.