靶向治疗盆腹腔上皮样炎性肌纤维母细胞肉瘤一例

doi:10.12280/gjfckx.20230820

摘要/Abstract

摘要：

上皮样炎性肌纤维母细胞肉瘤（epithelioid inflammatory myofibroblastic sarcoma，EIMS）是炎性肌纤维母细胞瘤的一种特殊亚型，是一种罕见的恶性间质肿瘤，具有间变性淋巴瘤激酶（anaplastic lymphoma kinase，ALK）阳性、侵袭性高和预后差等临床特点，而ALK抑制剂（TKI）是治疗这类肿瘤的靶向药物。报道1例手术难以切除的盆腹腔EIMS病例，该患者为年轻女性，临床表现为左下腹痛伴发热，病理明确诊断为EIMS伴有ALK基因的RANBP2-ALK融合突变，经TKI靶向治疗后腹痛等症状快速缓解，且随着用药时间的延长，盆腹腔内病灶进行性缩小。患者经TKI治疗3年，影像学检查均未见肿瘤病灶复发或转移征象。该病例提供了一个靶向治疗持续应答的成功病例，证实了TKI对不可切除、难治性ALK阳性EIMS患者进行靶向治疗的可能性。

关键词: 上皮样细胞, 肉瘤, 间变性淋巴瘤激酶, 突变, 基因融合, 克唑替尼

Abstract:

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a specific subtype of inflammatory myofibroblastic tumor. It is a rare malignant mesenchymal tumor with clinical features such as anaplastic lymphoma kinase (ALK) positivity, high aggressiveness, and poor prognosis. ALK inhibitors (TKI) are targeted drugs for the treatment of these tumors. We report a case of pelvic-abdominal EIMS that was difficult to be resected by surgery. The patient was a young woman with clinical manifestations of left lower abdominal pain with fever, and was clearly diagnosed by pathology as EIMS with RANBP2-ALK fusion mutation of ALK gene, and the symptoms of abdominal pain and other symptoms were rapidly relieved after TKI-targeted therapy, and with the prolongation of the time of administration, the lesion in the pelvic-abdominal cavity progressively shrunken. The patient was treated with TKI for 3 years, and no signs of recurrence or metastasis of the tumor lesions were seen on any of the imaging examinations. A successful case of sustained response to targeted therapy is provide, and confirm the possibility of TKI targeted therapy for patients with unresectable, refractory ALK-positive EIMS.

Key words: Epithelioid cells, Sarcoma, Anaplastic lymphoma kinase, Mutation, Gene fusion, Crizotinib

孙佳凡, 韩素萍, 王聪, 蒋敏波, 王秀丽. 靶向治疗盆腹腔上皮样炎性肌纤维母细胞肉瘤一例[J]. 国际妇产科学杂志, 2024, 51(2): 236-240.

SUN Jia-fan, HAN Su-ping, WANG Cong, JIANG Min-bo, WANG Xiu-li. Targeted Therapy for Pelvic-Abdominal Epithelioid Inflammatory Myofibroblastic Sarcoma: A Case Report[J]. Journal of International Obstetrics and Gynecology, 2024, 51(2): 236-240.

图/表 3

图1 术前盆腔MRI图注：子宫上方不规则肿块，腹膜广泛饼样增厚（箭头所示为病灶范围）。A 矢状面；B 水平面。

图2 盆腔肿物病理及免疫组织化学图注： A 盆腔肿物病理图（HE×200）；B ALK（D5F3，核膜++）（EnVision×100）；C CKpan（+）（EnVision×100）；D Ki-67（约50%+）（EnVision×100）。

图3 克唑替尼治疗期间腹部CT检查盆腔肿物变化情况注：A 治疗前；B 治疗后1个月；C 治疗后4个月；D 治疗后6个月；E 治疗后17个月；F 治疗后32个月。治疗中子宫上方病灶进行性缩小（箭头所示为病灶范围）。

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