引用文本：孙玲玲, 蔡晓军, 曾睿芳, 等. 罕见ALK基因融合结肠癌1例并文献复习[J/CD]. 消化肿瘤杂志（电子版）, 2025, 17(2):262-266.

作者：孙玲玲¹，蔡晓军¹，曾睿芳¹，陈凤²

单位：1.南方医科大学中西医结合医院 肿瘤科，广东 广州 510315；2.南方医科大学中西医结合医院 针灸康复科，广东 广州 510315

Authors：Sun Lingling¹, Cai Xiaojun¹, Zeng Ruifang¹, Chen Feng²

Unit：1. Department of Oncology, Southern Medical University Hospital of Integrated Traditional Chinese and Western Medicine, Guangzhou 510315, Guangdong, China；2. Department of Acupuncture and Moxibustion，Southern Medical University Hospital of Integrated Traditional Chinese and Western Medicine, Guangzhou 510315, Guangdong, China

摘要：

间变性淋巴瘤激酶（anaplastic lymphoma kinase, ALK）基因融合是非小细胞肺癌的常见分子事件，也是其重要的临床亚型之一，但在结直肠癌中极为罕见。本文报道1例罕见的ALK基因融合结肠癌患者，该患者确诊时已出现双肺多发转移。初始治疗采用常规结直肠癌化疗及靶向药物治疗，但未取得明显疗效。随后，患者先后接受一代（克唑替尼）、二代（塞瑞替尼）及三代（洛拉替尼）ALK抑制剂治疗，获得较好的临床疗效，无进展生存期达30个月。通过文献复习，本文总结了ALK基因融合结肠癌患者的临床特点及治疗经验。ALK基因融合常见于女性、右侧结肠癌和黏液表型的患者中，EML4-ALK是最常见的融合类型。尽管ALK基因融合在结直肠癌中较罕见，但阳性患者对ALK抑制剂显示出较好的反应，因此，针对结直肠癌患者进行ALK基因检测具有临床价值。

关键词：结直肠癌；基因融合；ALK基因；二代测序

Abstract：

Anaplastic lymphoma kinase (ALK) gene fusions are common molecular events and a significant clinical subtype in non-small cell lung cancer, however, they are extremely rare in colorectal cancer. This article reports a rare case of a colon cancer patient with ALK gene fusion, who was diagnosed with multiple metastases in both lungs. The initial treatment involved conventional chemotherapy and targeted therapy for colorectal cancer, but no significant therapeutic effect was achieved. Subsequently, the patient was treated with first-generation (crizotinib), second-generation (ceritinib), and third-generation (lorlatinib) ALK inhibitors, resulting in a favorable clinical response, with a progression-free survival time of 30 months. Through literature reviews, this article summarizes the clinical characteristics and treatment experience of colon cancer patients with ALK gene fusion. ALK gene fusion is more commonly seen in women, patients with right-sided colon cancer, and those with a mucinous phenotype. The most common fusion type is EML4-ALK. Although ALK gene fusions are rare in colorectal cancer, patients with this alteration show a positive response to ALK inhibitors. Therefore, ALK gene testing in colorectal cancer patients is clinically valuable.

Key words：Colorectal cancer; Gene fusion; ALK gene; Next-generation sequencing

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