Xu Xiumei, Li Ling, Zhang Yaxuan, Meng Fanfan, Xie Hongmei, Duan Ruiqi
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Transl Cancer Res. 2022 Sep;11(9):3379-3384. doi: 10.21037/tcr-22-368.
Inflammatory myofibroblastic tumor (IMT) is a rare disease that mainly involves the lung and the abdomen. The gold standard of the IMT treatment is radical surgery, while chemotherapy and radiotherapy are represented usually for unresectable lesions. Anaplastic lymphoma kinase () rearrangements are present in approximately 50% of IMT patients, and several clinical trials of tyrosine kinase inhibitors (TKIs) in the treatment of -positive IMT patients are underway.
We reported a case of IMT in the right pelvic cavity. Initially, the patient underwent resection of multiple lesions. Unfortunately, the patient's tumor recurred half a year later, and enhanced computerized tomography (CT) of the whole abdomen revealed multiple low-density masses. Then the patient underwent resection of the recurrent tumors. Immunohistochemical staining exhibited the expression of in the tumor cells, and next-generation sequencing (NGS) technology revealed two novel ALK fusions, -ribosome binding protein 1 () and hydroxyacid oxidase 1 () fusions. These fusions were able to be transcribed and captured by RNA level. And the two fusions have not been reported in the IMTs.
This case expanded the range of fusion types and provided a promising molecular-targeted treatment strategy. In addition, the two novel fusions may be the recurrent oncogenic mechanism in clinically aggressive IMT.
炎性肌纤维母细胞瘤（IMT）是一种罕见疾病，主要累及肺部和腹部。IMT治疗的金标准是根治性手术，而化疗和放疗通常用于不可切除的病变。约50%的IMT患者存在间变性淋巴瘤激酶（ALK）重排，目前正在进行多项酪氨酸激酶抑制剂（TKIs）治疗ALK阳性IMT患者的临床试验。
我们报告了一例右侧盆腔腔IMT病例。最初，患者接受了多处病变的切除。不幸的是，患者的肿瘤半年后复发，全腹增强计算机断层扫描（CT）显示多个低密度肿块。然后患者接受了复发性肿瘤的切除。免疫组织化学染色显示肿瘤细胞中ALK的表达，下一代测序（NGS）技术揭示了两种新的ALK融合，即-核糖体结合蛋白1（RBP1）和羟酸氧化酶1（HAO1）融合。这些融合在RNA水平能够被转录和捕获。并且这两种融合在IMT中尚未见报道。
该病例扩大了ALK融合类型的范围，并提供了一种有前景的分子靶向治疗策略。此外，这两种新的ALK融合可能是临床侵袭性IMT中的复发致癌机制。
