The incidence of pediatric cancers is rising steadily across the world, along with the challenges in understanding the molecular mechanisms and devising effective therapeutic strategies. Pediatric cancers are presented with diverse molecular characteristics and more distinct subtypes when compared to adult cancers. Recent studies on the genomic landscape of pediatric cancers using next-generation sequencing (NGS) approaches have redefined this field by providing better subtype characterization and novel actionable targets. Since early identification and personalized treatment strategies influence therapeutic outcomes, survival, and quality of life in pediatric cancer patients, the quest for actionable biomarkers is of great value in this field. Fusion genes that are prevalent and recurrent in several pediatric cancers are ideally suited in this context due to their disease-specific occurrence. In this review, we explore the current status of fusion genes in pediatric cancer subtypes and their use as biomarkers for diagnosis and personalized therapy. We discuss the technological advancements made in recent years in NGS sequencing and their impact on fusion detection algorithms that have revolutionized this field. Finally, we also discuss the advantages of pairing liquid biopsy protocols for fusion detection and their eventual use in diagnosis, treatment monitoring.

儿科癌症的发病率在世界范围内稳步上升，同时在理解分子机制和制定有效的治疗策略方面也面临挑战。与成人癌症相比，小儿癌症呈现出不同的分子特征和更不同的亚型。最近使用下一代测序 (NGS) 方法对儿科癌症基因组景观的研究通过提供更好的亚型表征和新的可操作靶点重新定义了该领域。由于早期识别和个性化治疗策略会影响儿科癌症患者的治疗结果、生存率和生活质量，因此寻求可操作的生物标志物在该领域具有重要价值。在几种儿科癌症中普遍和复发的融合基因非常适合这种情况，因为它们的疾病特异性发生。在这篇综述中，我们探讨了融合基因在儿科癌症亚型中的现状以及它们作为诊断和个性化治疗的生物标志物的用途。我们讨论了近年来在 NGS 测序方面取得的技术进步及其对彻底改变该领域的融合检测算法的影响。最后，我们还讨论了将液体活检方案配对用于融合检测的优势及其在诊断、治疗监测中的最终用途。我们讨论了近年来在 NGS 测序方面取得的技术进步及其对彻底改变该领域的融合检测算法的影响。最后，我们还讨论了将液体活检方案配对用于融合检测的优势及其在诊断、治疗监测中的最终用途。我们讨论了近年来在 NGS 测序方面取得的技术进步及其对彻底改变该领域的融合检测算法的影响。最后，我们还讨论了将液体活检方案配对用于融合检测的优势及其在诊断、治疗监测中的最终用途。