Xu Xiaojing, Li Hong, Peng Ke, Yu Yiyi, Chen Lingli, Fang Yong, Sun Yihong, Hou Yingyong, Liu Tianshu
Department of Oncology, Zhongshan Hospital, Fudan University, Shanghai 200032, P.R. China.
Department of Oncology, Jiahui International Hospital, Shanghai 200032, P.R. China.
Oncol Lett. 2019 Feb;17(2):2370-2376. doi: 10.3892/ol.2018.9865. Epub 2018 Dec 21.
Epithelioid inflammatory myofibroblastic sarcoma (EIMS), a specific subtype of inflammatory myofibroblastic tumors (IMT), is a relatively rare malignant mesenchymal tumor with clinical features of positive anaplastic lymphoma kinase (ALK), high invasiveness, treatment resistance and poor prognosis. Therefore, ALK inhibitors represent specific effective drugs for patients with this type of tumor. However, acquired resistance remains inevitable without a clear mechanism of action and therapeutic strategy to counteract this. Herein, a chromosomal ALK-G1269A mutation was identified using next-generation sequencing (NGS) and the mutation was confirmed by Sanger sequencing in a patient with crizotinib-resistant EIMS who benefited from treatment with the second-generation ALK inhibitor AP26113. To the best of our knowledge, a few rare cases of crizotinib-resistance in IMTs have been reported, and there are no reported cases in EIMS. In this article, we present the case of a patient with a secondary mutation of ALK-G1269A in EIMS, and suggest that AP26113 (Brigatinib) may represent an ideal treatment for these patients.
上皮样炎性肌纤维母细胞肉瘤（EIMS）是炎性肌纤维母细胞瘤（IMT）的一种特殊亚型，是一种相对罕见的恶性间叶性肿瘤，具有间变性淋巴瘤激酶（ALK）阳性、高侵袭性、治疗抵抗及预后不良等临床特征。因此，ALK抑制剂是这类肿瘤患者的特效药物。然而，由于缺乏明确的作用机制和应对策略，获得性耐药仍不可避免。在此，通过二代测序（NGS）在一名克唑替尼耐药的EIMS患者中鉴定出一种染色体ALK-G1269A突变，并通过桑格测序法进行了确认，该患者接受二代ALK抑制剂AP26113治疗后获益。据我们所知，IMT中克唑替尼耐药的罕见病例已有报道，但EIMS中尚无此类报道。在本文中，我们报告了一例EIMS患者发生ALK-G1269A继发性突变的病例，并表明AP26113（布加替尼）可能是这些患者的理想治疗药物。
