Clinicopathological Significance of APC Mutation in Patient with Colorectal Cancer.

IF 2.5 3区医学 Q3 ONCOLOGY

Oncology Pub Date : 2025-03-13 DOI:10.1159/000545255

Kyoung Min Kim, Woo Sung Moon, Gi Won Ha, Ho Sung Park, Kyu Yun Jang, Min Ro Lee, Myoung Ja Chung, Ae Ri Ahn

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引用次数: 0

Abstract

Introduction: In colorectal cancer (CRC), the prognostic significance of Adenomatous polyposis coli (APC) mutations remains controversial. We aimed to investigate the effect of APC mutations on the prognosis of patients with CRC and to elucidate the clinicopathological features associated with these mutations.

Methods: Formalin-fixed, paraffin-embedded CRC specimens were tested for APC mutations using targeted next-generation sequencing, mismatch repair (MMR) deficiency was evaluated using immunohistochemical staining. Clinicopathological features were obtained from medical records and through a review of hematoxylin and eosin slides.

Results: APC mutations and MMR deficiencies were detected in 72.8% and 8.9% of the patients with CRC, respectively. APC mutations were significantly correlated with male sex (p = 0.046) and left colon cancer (p < 0.001). They were inversely correlated with age (p = 0.020), serum 19-9 elevation (p = 0.047), distant metastasis (p = 0.005) and MMR deficiency (p < 0.001). In univariate analysis, APC mutations correlated with longer overall survival in patients with CRC.

Conclusions: APC mutations are associated with favorable prognostic factors and longer overall survival. Further investigation is needed to understand the mechanisms of association between APC mutations to favorable cancer prognosis and their correlation MMR protein expression.

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结直肠癌患者APC突变的临床病理意义。

在结直肠癌（CRC）中，大肠腺瘤性息肉病（APC）突变的预后意义仍然存在争议。我们旨在探讨APC突变对结直肠癌患者预后的影响，并阐明与这些突变相关的临床病理特征。方法：用福尔马林固定、石蜡包埋的结直肠癌标本，采用靶向下一代测序检测APC突变，用免疫组织化学染色评估错配修复（MMR）缺陷。临床病理特征是通过医疗记录和复查苏木精和伊红切片获得的。结果：72.8%的结直肠癌患者存在APC突变，8.9%的结直肠癌患者存在MMR缺陷。APC突变与男性相关（P = 0.046），与左结肠癌相关（P < 0.001）。与年龄（P = 0.020）、血清19-9升高（P = 0.047）、远处转移（P = 0.005）、MMR缺乏（P < 0001）呈负相关。在单变量分析中，APC突变与CRC患者更长的总生存期相关。结论：APC突变与有利的预后因素和较长的总生存期相关。APC突变与肿瘤预后的关系机制及其与MMR蛋白表达的相关性有待进一步研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oncology 医学-肿瘤学

CiteScore

6.00

自引率

2.90%

发文量

审稿时长

6-12 weeks

期刊介绍： Although laboratory and clinical cancer research need to be closely linked, observations at the basic level often remain removed from medical applications. This journal works to accelerate the translation of experimental results into the clinic, and back again into the laboratory for further investigation. The fundamental purpose of this effort is to advance clinically-relevant knowledge of cancer, and improve the outcome of prevention, diagnosis and treatment of malignant disease. The journal publishes significant clinical studies from cancer programs around the world, along with important translational laboratory findings, mini-reviews (invited and submitted) and in-depth discussions of evolving and controversial topics in the oncology arena. A unique feature of the journal is a new section which focuses on rapid peer-review and subsequent publication of short reports of phase 1 and phase 2 clinical cancer trials, with a goal of insuring that high-quality clinical cancer research quickly enters the public domain, regardless of the trial’s ultimate conclusions regarding efficacy or toxicity.