Liang Qi, Jiang Xingyu, Zhou Ziwei, Jiang Yali, Ni Siqi, Zhao Tingyu, Zhang Xiao, Xu Huanhuan, Gong Qixing, Liu Lingxiang
Department of Oncology, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.
Department of Nuclear Medicine, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.
Front Med (Lausanne). 2025 May 20;12:1572632. doi: 10.3389/fmed.2025.1572632. eCollection 2025.
Anaplastic lymphoma kinase () gene rearrangements have been increasingly detected in mesenchymal neoplasms. -rearranged mesenchymal neoplasms occur mainly in superficial tissues but rarely in internal organs. Herein, we firstly report a primary lung lesion presenting as a rare -rearranged mesenchymal neoplasm. The patient diagnosed with primary pulmonary -rearranged mesenchymal neoplasm (PPAMN) received ensartinib as postoperative adjuvant therapy, achieving a disease-free survival of 10 months. Continuation of ensartinib as first-line treatment enabled him to benefit from a partial response, with a progression-free survival of 11 months. Second next-generation sequencing (NGS) revealed elevated abundance along with secondary mutation. After local radiotherapy combined with ensartinib continuation, his disease was temporarily stable for 7 months. Unfortunately, this disease became uncontrolled with an overall survival (OS) of 34 months. This is the first case of -rearranged mesenchymal neoplasm manifested as a primary lung lesion and a novel fusion was identified by NGS. The family of -rearranged mesenchymal neoplasms is expanding and ensartinib could be a potential treatment option for patients with . Repeated biopsy and NGS detection are critical to guide treatment selection at disease progression.
间变性淋巴瘤激酶（ALK）基因重排在间叶性肿瘤中越来越多地被检测到。ALK重排的间叶性肿瘤主要发生在浅表组织，但很少发生在内脏器官。在此，我们首次报告了一例表现为罕见的ALK重排间叶性肿瘤的原发性肺病变。被诊断为原发性肺ALK重排间叶性肿瘤（PPAMN）的患者接受了恩莎替尼作为术后辅助治疗，实现了10个月的无病生存期。继续将恩莎替尼作为一线治疗使他从部分缓解中获益，无进展生存期为11个月。第二次二代测序（NGS）显示ALK丰度升高以及继发性ALK突变。在局部放疗联合继续使用恩莎替尼后，他的病情暂时稳定了7个月。不幸的是，该疾病最终无法控制，总生存期（OS）为34个月。这是首例表现为原发性肺病变的ALK重排间叶性肿瘤病例，并且通过NGS鉴定出了一种新的ALK融合。ALK重排间叶性肿瘤家族正在扩大，恩莎替尼可能是ALK重排患者的一种潜在治疗选择。重复活检和NGS检测对于在疾病进展时指导治疗选择至关重要。
