Choi Songji, Kim Miso, Kim Sheehyun, Park Taekeun, Kwak Yoonjin, Bae Jeong Mo, Yun Hongseok, Kim Jee Hyun
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.
Cancer Res Treat. 2025 Jul;57(3):899-904. doi: 10.4143/crt.2024.1184. Epub 2024 Dec 18.
Inflammatory myofibroblastic tumor (IMT) is a rare entity, primarily affecting young individuals, often involving the abdomen, pelvis, or lung. Approximately 50% of IMTs harbor anaplastic lymphoma kinase (ALK) gene rearrangements, making ALK inhibitors a viable treatment. We report a case of a 40-year-old female with metastatic IMT harboring a CARS1-ALK fusion. Initial chemotherapy failed, but targeted therapy with alectinib through the KOrean Precision Medicine Networking Group Study of MOlecular profiling guided therapy based on genomic alterations in advanced Solid tumors (KOSMOS)-II study led to significant tumor regression and ongoing, durable clinical improvement of 19 months. This case highlights the importance of precision medicine and raises the reappraisal of targeted agents outside of approved indications for rare cancers with actionable genomic alterations.
炎性肌成纤维细胞瘤（IMT）是一种罕见疾病，主要影响年轻人，常累及腹部、骨盆或肺部。约50%的IMT存在间变性淋巴瘤激酶（ALK）基因重排，这使得ALK抑制剂成为一种可行的治疗方法。我们报告一例40岁女性转移性IMT患者，其携带CARS1-ALK融合基因。初始化疗失败，但通过韩国精准医学网络小组基于晚期实体瘤基因组改变的分子谱引导治疗研究（KOSMOS）-II研究，使用阿来替尼进行靶向治疗导致肿瘤显著消退，并持续、持久地临床改善达19个月。该病例突出了精准医学的重要性，并引发了对具有可操作基因组改变的罕见癌症在批准适应症之外的靶向药物的重新评估。
