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一名晚期结直肠癌患者中一种新型基因重排的鉴定与特征分析:病例报告

Identification and Characterization of a Novel Gene Rearrangement in an Advanced Colorectal Cancer Patient: A Case Report.

作者信息

Montero Juan Carlos, Tur Raquel, Jiménez-Perez Andrea, Filipovich Elena, Alcaraz Susana, Rodríguez Marta, Abad Mar, Sayagués José María

机构信息

Department of Pathology, Institute for Biomedical Research of Salamanca (IBSAL), University Hospital of Salamanca, Paseo de San Vicente, 58-182, 37007 Salamanca, Spain.

Centro de Investigación Biomédica en Red Cáncer (CIBERONC), 28029 Madrid, Spain.

出版信息

Int J Mol Sci. 2024 Nov 26;25(23):12665. doi: 10.3390/ijms252312665.

Abstract

Despite the existence of effective therapy options for patients with localized colorectal cancer, advanced-stage patients have limited therapies. Genomic profiling is a promising tool for guiding treatment selection as well as patient monitoring. Here, we describe a novel gene rearrangement () detected in a patient with advanced colorectal cancer that could be a therapeutic target. The patient underwent surgical resection but died after the operation from fecal peritonitis. To our knowledge, this is the first report in which the gene rearrangement has been described in an advanced colorectal adenocarcinoma patient.

摘要

尽管对于局限性结直肠癌患者存在有效的治疗选择,但晚期患者的治疗方法有限。基因组分析是指导治疗选择以及患者监测的一种有前景的工具。在此,我们描述了在一名晚期结直肠癌患者中检测到的一种新型基因重排(),其可能是一个治疗靶点。该患者接受了手术切除,但术后死于粪性腹膜炎。据我们所知,这是首次在晚期结直肠腺癌患者中描述该基因重排的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b842/11641570/65abb61fd851/ijms-25-12665-g001.jpg

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