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韩国一家机构中5例KRAS基因变异型结直肠癌患者的临床病理分析

Clinicopathologic Analysis of Five Patients with -Mutated Colorectal Cancer in a Single Korean Institute.

作者信息

Oh Harim, Jang Inho, Hwang Jinha, Lee Soohyeon, An Jungsuk, Sim Jongmin

机构信息

Department of Pathology, Korea University Anam Hospital, Korea University College of Medicine, 73 Anam-ro, Seongbuk-gu, Seoul 02841, Republic of Korea.

Department of Medicine, Korea University College of Medicine, Seoul 02841, Republic of Korea.

出版信息

Diagnostics (Basel). 2025 Apr 11;15(8):972. doi: 10.3390/diagnostics15080972.

Abstract

: Mutations in RAS/RAF are common in colorectal cancer (CRC) and play a pivotal role in guiding treatment selection. With the recent advent of immunotherapy, microsatellite (MSI) status, tumor mutation burden (TMB), and mutations, particularly those leading to high TMB, have gained importance in CRC. This study aimed to examine the clinicopathological characteristics of patients with CRC with mutations. : We identified mutations in patients with colorectal cancer who had available next-generation sequencing (NGS) results from a single institute in Korea. RAS/RAF status, MSI status, and TMB were evaluated, and based on the TMB results, patients with mutations were classified as having either pathogenic or non-pathogenic mutations. After excluding non-Korean patients, we compared the groups based on the presence of pathogenic mutations. : Five mutations (A456P, P286R, R1111W, R609W, and V922I) were identified. Only A456P and P286R were associated with an exceptionally high TMB, resulting in two patients (1.1%) being categorized as having pathogenic . The -mutant group showed an extremely high TMB and tended to include younger patients. Among the two pathogenic cases, one showed poor histological differentiation, and the tumors were split between the right and left colons (one in each). : CRC with mutations tend to exhibit TMB-high, occur in younger patients, localize to the right colon, and display poor histological differentiation. Given that mutations can serve as indicators for immunotherapy, recognizing these mutations is of clinical importance.

摘要

RAS/RAF基因的突变在结直肠癌(CRC)中很常见,在指导治疗方案选择方面起着关键作用。随着免疫疗法的近期出现,微卫星(MSI)状态、肿瘤突变负荷(TMB)以及突变,尤其是那些导致高TMB的突变,在CRC中变得愈发重要。本研究旨在探讨具有[特定基因]突变的CRC患者的临床病理特征。:我们从韩国一家机构获取了具有下一代测序(NGS)结果的结直肠癌患者中鉴定出[特定基因]突变。评估了RAS/RAF状态、MSI状态和TMB,并根据TMB结果,将具有[特定基因]突变的患者分为具有致病性或非致病性突变。在排除非韩国患者后,我们根据致病性[特定基因]突变的存在情况对各组进行了比较。:鉴定出五个[特定基因]突变(A456P、P286R、R1111W、R609W和V922I)。只有A456P和P286R与极高的TMB相关,导致两名患者(1.1%)被归类为具有致病性[特定基因]突变。[特定基因]突变组显示出极高的TMB,并且倾向于包括年轻患者。在这两例致病性病例中,一例显示组织学分化差,肿瘤分布在左右结肠(各一例)。:具有[特定基因]突变的CRC往往表现为TMB高,发生在年轻患者中,定位于右结肠,并显示出较差的组织学分化。鉴于[特定基因]突变可作为免疫治疗的指标,识别这些突变具有临床重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d33/12025746/2c65b6a70a9c/diagnostics-15-00972-g001.jpg

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