儿童结直肠癌的最新进展:系统综述。

IF 1.5 3区 医学 Q2 PEDIATRICS
Navdeep Dhoat, Shilpa Sharma
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引用次数: 0

摘要

目的:研究儿童结直肠癌(PCRC)的分子特征、临床和遗传学特征、筛查指南和治疗策略等方面的最新进展。方法:于2025年3月25日对PubMed进行检索,检索词为Pediatric colorectal cancer,并带上一年度的过滤,共检索到414篇文章。在筛选以儿科病例分子谱或筛查指南为重点的相关文章时,选择了10篇文章,描述了36例儿科患者的38种肿瘤。结果:PCRC临床表现为不明原因腹痛、腹胀、呕吐、便血、肠梗阻、肠套叠。显著的分子分析包括与成人CRC相比,儿童/青年CRC的不同基因组景观,以及WNT和PI3K-AKT通路的差异。成人PCRC中RNF43突变的频率明显高于APC突变,提示WNT通路激活的年龄相关差异。PCRC表现出CDK6扩增和赖氨酸降解途径富集的特殊特征。少数PCRC病例显示错配修复(MMR)缺陷,提示二次攻击体细胞改变。最近的进展突出在确定遗传性癌症易感性综合征和应用吲哚菁绿荧光引导手术。结论:PCRC的不同分子特征强调了针对年龄的治疗策略、多学科护理和精准医疗的必要性,以改善PCRC的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recent advances in pediatric colorectal cancer: a systematic review.

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

Method: 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.

Results: 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.

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

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来源期刊
CiteScore
3.00
自引率
5.60%
发文量
215
审稿时长
3-6 weeks
期刊介绍: Pediatric Surgery International is a journal devoted to the publication of new and important information from the entire spectrum of pediatric surgery. The major purpose of the journal is to promote postgraduate training and further education in the surgery of infants and children. The contents will include articles in clinical and experimental surgery, as well as related fields. One section of each issue is devoted to a special topic, with invited contributions from recognized authorities. Other sections will include: -Review articles- Original articles- Technical innovations- Letters to the editor
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