Hsiao Sheng-Yen, He Hong-Lin, Weng Teng-Song, Lin Cheng-Yao, Chao Chien-Ming, Huang Wen-Tsung, Tsao Chao-Jung
Division of Hematology-Oncology, Department of Internal Medicine, Chi Mei Medical Center, Liouying, Tainan, Taiwan.
Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Case Rep Oncol. 2021 Mar 1;14(1):232-238. doi: 10.1159/000511069. eCollection 2021 Jan-Apr.
Anti-epithelial growth factor receptor or anti-vascular endothelial growth factor agents combined with chemotherapy were the standard of treatment for metastatic colorectal cancer (CRC). However, increasing evidence of molecularly stratified treatment makes the complexity of treatment. Anaplastic lymphoma kinase (ALK) gene alternation is one of potential target for biomarker-guided therapy for CRC. We present a case of a 56-year-old man who suffered from advanced ascending colon cancer, harboring echinoderm microtubule associated protein-like 4 (EML4)-ALK fusion gene E21; A20 variant, a rare variant in EML4-ALK fusion gene in lung cancer. We also detected this fusion gene from different tissue types including circulating tumor DNA (ctDNA) and ascites fluid. The patient was offered alectinib, an ALK inhibitor, with partial response in lung, liver, and peritoneal metastasis for 8 months. Tumor heterogeneity, especially in gastrointestinal tract cancer, raise our interest in comprehensive genetic profiling in clinical practice. Convenience and reliability of next-generation sequencing, including using ctDNA, help physicians deal with clinical dilemma. ALK-positive CRC is rare. However, advanced CRC with ALK gene alteration responds to ALK inhibitor. It is reasonable to check ALK gene alteration in clinical practice for CRC.
抗表皮生长因子受体或抗血管内皮生长因子药物联合化疗曾是转移性结直肠癌（CRC）的标准治疗方案。然而，越来越多的分子分层治疗证据使得治疗变得复杂。间变性淋巴瘤激酶（ALK）基因改变是CRC生物标志物导向治疗的潜在靶点之一。我们报告一例56岁男性患者，患有晚期升结肠癌，携带棘皮动物微管相关蛋白样4（EML4）-ALK融合基因E21；A20变体，这是肺癌中EML4-ALK融合基因的一种罕见变体。我们还从包括循环肿瘤DNA（ctDNA）和腹水在内的不同组织类型中检测到了这种融合基因。该患者接受了ALK抑制剂阿来替尼治疗，肺部、肝脏和腹膜转移灶出现部分缓解，持续8个月。肿瘤异质性，尤其是在胃肠道癌症中，引发了我们在临床实践中对全面基因谱分析的兴趣。下一代测序的便利性和可靠性，包括使用ctDNA，有助于医生应对临床困境。ALK阳性的CRC很少见。然而，伴有ALK基因改变的晚期CRC对ALK抑制剂有反应。在CRC的临床实践中检测ALK基因改变是合理的。
