Recent advances in pediatric colorectal cancer: a systematic review

To study the recent advances in Pediatric colorectal cancer (PCRC), including molecular profiling, clinical and genetic characteristics, screening guidelines, and treatment strategies.

A PubMed search was done on 25 March 2025, by using search words Pediatric colorectal cancer with a filter of last year, yielding 414 articles. On screening for relevant articles focusing on molecular profiles or screening guidelines in pediatric cases, 10 articles were selected, describing 38 tumors in 36 pediatric patients.

Clinical features of PCRC included unexplained abdominal pain, abdominal distension, vomiting, hematochezia, intestinal obstruction, and intestinal intussusception. Salient molecular profiling included distinct genomic landscapes in pediatric/ young adult CRC compared to adult CRC, and differences in WNT and PI3K-AKT pathways. PCRC had a significantly higher frequency of RNF43 mutations versus APC mutations in adults, suggesting age-related differences in WNT pathway activation. PCRC showed a peculiar profile with CDK6 amplification and enrichment of lysine degradation pathway. Few PCRC cases showed mismatch repair (MMR) deficiency, suggesting second-hit somatic alterations. The recent advances highlight in identifying hereditary cancer susceptibility syndromes and utility of indocyanine green fluorescence-guided surgery.

Distinct molecular signatures in PCRC underscore the need for age-specific treatment strategies, multidisciplinary care, and precision medicine to improve outcome for PCRC.