Chen Haiyang, Wu Yingxi, Wu Xuan, Wang Kai, Xia Qingxin, Wang Qiming
Department of Internal Medicine, The Affiliated Cancer Hospital of Zhengzhou University & Henan Cancer Hospital, Zhengzhou, China.
Academy of Medical Science, Zhengzhou University, Zhengzhou, China.
Clin Respir J. 2024 Dec;18(12):e70040. doi: 10.1111/crj.70040.
Neuroendocrine tumor (NET) is a deadly malignancy disease that can be found anywhere in the body. The lack of tumor-specific treatment led to the worse prognosis of NET. Anaplastic lymphoma kinase-tyrosine kinase inhibitors (ALK-TKIs), such as alectinib and crizotinib, have been used in the treatment of NET patients with ALK rearrangement. However, the response to ensatinib in NET patients with rare ALK fusion has been rarely reported. Here, we report a 55-year-old Chinese female patient with NET (atypical carcinoid tumor) and a novel CEP44-ALK rearrangement identified by next-generation sequencing (NGS). NGS can provide more information on mutation landscape for rare neuroendocrine tumors to guide treatment and assist in clinical decisions by presenting molecular changes. The patient received ensartinib (225 mg/day) for 18 months until disease progression in June 2024 and achieved a radiographic partial response. Although patients with ALK fusions showed response to ensatinib in nonsmall cell lung cancer (NSCLC), this study first reports a metastatic NET case with a novel CEP44-ALK rearrangement that responded favorably to ensartinib.
神经内分泌肿瘤（NET）是一种致命的恶性疾病，可在身体的任何部位发现。缺乏针对肿瘤的特异性治疗导致NET的预后更差。间变性淋巴瘤激酶-酪氨酸激酶抑制剂（ALK-TKIs），如阿来替尼和克唑替尼，已被用于治疗ALK重排的NET患者。然而，关于具有罕见ALK融合的NET患者对恩沙替尼的反应鲜有报道。在此，我们报告一名55岁的中国女性NET患者（非典型类癌肿瘤），通过下一代测序（NGS）鉴定出一种新的CEP44-ALK重排。NGS可以通过呈现分子变化，为罕见神经内分泌肿瘤的突变图谱提供更多信息，以指导治疗并协助临床决策。该患者接受恩沙替尼（225毫克/天）治疗18个月，直至2024年6月疾病进展，取得了影像学部分缓解。尽管ALK融合的患者在非小细胞肺癌（NSCLC）中对恩沙替尼有反应，但本研究首次报告了一例具有新的CEP44-ALK重排的转移性NET病例，该病例对恩沙替尼反应良好。
