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阑尾腺癌中的突变特征:热腹腔内化疗未来个性化的潜力?

Mutational signatures in appendiceal adenocarcinomas: potential for future personalization in hyperthermic intraperitoneal chemotherapy?

作者信息

Vierra Mason, Morgan Ryan, Eng Oliver

机构信息

Department of Surgery, Brigham and Women's Hospital, Boston, MA, USA.

Department of Surgery, University of Chicago Medical Center, Chicago, IL, USA.

出版信息

Per Med. 2025 Jul 11:1-8. doi: 10.1080/17410541.2025.2532360.

DOI:10.1080/17410541.2025.2532360
PMID:40646433
Abstract

Cytoreductive surgery with hyperthermic intraperitoneal chemotherapy (CRS/HIPEC) has become increasingly utilized in the treatment of appendiceal adenocarcinoma (AA) with peritoneal metastases. There are multiple intraperitoneal chemotherapeutic agents and protocols used at different centers, however there is little data available to guide clinicians on the optimal treatment strategy for individual patients. While it is often treated with paradigms extrapolated from colorectal cancer, AA has been shown to have a distinct mutational profile. Commonly mutated genes in AA such as KRAS and GNAS have been targeted by recently described systemic therapies for various tumors with positive results, suggesting that there may be a role for a patient-centered approach to HIPEC as well. Data specific to AA remains limited, however ongoing research into novel strategies such as next-generation sequencing of tumor samples and testing of patient-derived organoids for a variety of gastrointestinal cancers with peritoneal metastases has shown promise in personalizingHIPEC regimens.

摘要

细胞减灭术联合腹腔热灌注化疗(CRS/HIPEC)在治疗伴有腹膜转移的阑尾腺癌(AA)中应用越来越广泛。不同中心使用多种腹腔内化疗药物和方案,但几乎没有数据可指导临床医生针对个体患者制定最佳治疗策略。虽然AA通常采用从结直肠癌推断出的模式进行治疗,但已证明AA具有独特的突变谱。AA中常见的突变基因,如KRAS和GNAS,已被最近描述的针对各种肿瘤的全身治疗所靶向,结果呈阳性,这表明以患者为中心的HIPEC方法可能也有作用。然而,AA的具体数据仍然有限,不过对肿瘤样本的下一代测序和对各种伴有腹膜转移的胃肠道癌症患者来源类器官进行检测等新策略的持续研究,在个性化HIPEC方案方面已显示出前景。

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Per Med. 2025 Jul 11:1-8. doi: 10.1080/17410541.2025.2532360.
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