Liu Weifeng, Duan Qianqian, Gong Lihua, Yang Yongkun, Huang Zhen, Guo Hao, Niu Xiaohui
Deptartment of Orthopaedic Oncology Surgery, Beijing Ji Shui Tan Hospital, Peking University, Beijing, 100035, People's Republic of China.
Fourth Clinical College of Peking University, Beijing, People's Republic of China.
Invest New Drugs. 2021 Feb;39(1):278-282. doi: 10.1007/s10637-020-00984-5. Epub 2020 Sep 11.
An inflammatory myofibroblastic tumor (IMT) is a rare invasive soft tissue mass with intramuscular penetration that is primarily treated via a surgical procedure. However, with unclear boundaries and a high rate of relapse, there is no standard treatment for recurrence or unresectable tumors. It is noteworthy that approximately half of IMTs harbor genetic rearrangements of the anaplastic lymphoma kinase (ALK). ALK inhibitors have been used successfully in the treatment of IMTs with a variety of ALK fusions. Here, we present a case of a 15-year-old patient with IMT around the hip. Next-generation sequencing (NGS) revealed an LRRFIP1-ALK fusion, which has not yet been reported in the literature. Crizotinib, an ALK inhibitor, was effective in the treatment of this patient, indicating that ALK inhibitors may be effective for IMT with LRRFIP1-ALK fusions. This report expands the list of gene fusions in IMTs and highlights a new target for treatment.
炎性肌纤维母细胞瘤(IMT)是一种罕见的具有肌层浸润的侵袭性软组织肿块,主要通过手术进行治疗。然而,由于边界不清且复发率高,对于复发或无法切除的肿瘤尚无标准治疗方法。值得注意的是,约一半的IMT存在间变性淋巴瘤激酶(ALK)基因重排。ALK抑制剂已成功用于治疗具有多种ALK融合的IMT。在此,我们报告一例15岁髋部周围IMT患者。二代测序(NGS)显示一种LRRFIP1-ALK融合,这在文献中尚未见报道。ALK抑制剂克唑替尼对该患者治疗有效,表明ALK抑制剂可能对具有LRRFIP1-ALK融合的IMT有效。本报告扩展了IMT中的基因融合列表,并突出了一个新的治疗靶点。