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一名11岁KRAS基因突变患者的早发性结直肠癌及多处转移:病例报告

Early-Onset Colorectal Adenocarcinoma and Multiple Metastases in an 11-Year-Old Patient With KRAS Mutation: A Case Report.

作者信息

Rezazadeh Mohammad, Kheradpishe Ahmadreza, Kamyabi Amirreza, Shateri Amiri Bahareh, Faranoush Mohammad

机构信息

Student Research Committee, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, IRN.

Internal Medicine, School of Medicine, Hazrat-e Rasool General Hospital, Iran University of Medical Sciences (IUMS), Tehran, IRN.

出版信息

Cureus. 2025 Mar 26;17(3):e81235. doi: 10.7759/cureus.81235. eCollection 2025 Mar.

Abstract

Early-onset colorectal cancer (EO-CRC), defined as colorectal adenocarcinoma diagnosed before age 50, is increasing globally, with distinct clinicopathologic and molecular features compared to adult-onset disease. While risk factors such as genetic mutations and lifestyle influences are implicated, pediatric cases remain exceptionally rare. This report presents a unique case of colorectal adenocarcinoma with multiple metastases in an 11-year-old patient, contributing critical insights into the molecular pathogenesis and diagnostic challenges of EO-CRC in pediatric populations. Furthermore, the aggressive nature of this disease underscores significant treatment challenges, ranging from limited evidence-based therapeutic protocols for young patients to variable responses to multimodal therapies, resulting in a generally poor prognosis.

摘要

早发性结直肠癌(EO-CRC)定义为50岁之前诊断出的结直肠腺癌,在全球范围内呈上升趋势,与成人发病的疾病相比具有独特的临床病理和分子特征。虽然基因突变和生活方式等风险因素与之相关,但儿科病例仍然极为罕见。本报告介绍了一例11岁患者患有多发转移的结直肠腺癌的独特病例,为儿科人群中EO-CRC的分子发病机制和诊断挑战提供了重要见解。此外,这种疾病的侵袭性突出了重大的治疗挑战,从针对年轻患者的循证治疗方案有限到对多模式疗法的反应不一,导致总体预后较差。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4931/12026210/376f41af6fbd/cureus-0017-00000081235-i01.jpg

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