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病例报告:一名患有新型CPE-ALK融合的肺腺鳞癌患者对阿来替尼产生显著反应。

Case report: Dramatic response to alectinib in a lung adenosquamous carcinoma patient harbouring a novel CPE-ALK fusion.

作者信息

Qin Yanyan, Li Fei, Tan Yuan, Duan Qianqian, Zhang Qin

机构信息

Department of Respiratory and Critical Care Medicine, Shanxi Provincial People's Hospital, Shanxi, China.

The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.

出版信息

Front Oncol. 2022 Dec 1;12:998545. doi: 10.3389/fonc.2022.998545. eCollection 2022.

DOI:10.3389/fonc.2022.998545
PMID:37082099
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10111186/
Abstract

Lung Adenosquamous carcinoma (ASC) is a rare histological subtype of lung cancer accounting for 0.4%-4% of all lung cancers. ASC is generally considered to be an aggressive cancer with poor prognosis. There is no specific standard treatment for ASC, and current treatment of ASC is relied on the guideline for non-small cell lung cancer (NSCLC). To date, only sporadic canonical EML4-ALK fusions have been reported in ASC patients, and the efficiency of ALK-TKI is still unclear in non-canonical ALK fusion positive ASC patients. Here we describe the case of a stage IV ASC patient harboring a novel CPE-ALK fusion detected 74 genes panel analysis. Interestingly, the TP53 was wild-type and no another somatic mutation was found within 74 genes. In addition, immunohistochemical staining (IHC) also supports an oncogenic role for the CPE-ALK fusion. Based on these findings, the patient received alectinib 600 mg twice daily. After 4 months on treatment the patients achieved a radiological partial response (PR) and his symptoms were significantly relieved. Imaging showed that lesions of the patient were reduced, and the clinical evaluation was partial response (PR). To the best of our knowledge, this is the first report of a dramatic tumor response to alectinib in a patient with ASC harboring a CPE-ALK fusion. In addition, targeted NGS analysis may improve detection of ALK fusion in routine practice.

摘要

肺腺鳞癌(ASC)是肺癌中一种罕见的组织学亚型,占所有肺癌的0.4%-4%。ASC通常被认为是一种侵袭性癌症,预后较差。目前尚无针对ASC的特异性标准治疗方法,ASC的现有治疗依赖于非小细胞肺癌(NSCLC)指南。迄今为止,仅在ASC患者中报道过散发性的典型EML4-ALK融合,且在非典型ALK融合阳性的ASC患者中,ALK-TKI的疗效仍不明确。在此,我们描述了一例IV期ASC患者的病例,该患者通过74基因panel分析检测到一种新型CPE-ALK融合。有趣的是,TP53为野生型,且在74个基因中未发现其他体细胞突变。此外,免疫组化染色(IHC)也支持CPE-ALK融合具有致癌作用。基于这些发现,该患者接受了阿来替尼600 mg,每日两次的治疗。治疗4个月后,患者获得了影像学部分缓解(PR),其症状也得到了显著缓解。影像学检查显示患者的病灶缩小,临床评估为部分缓解(PR)。据我们所知,这是首例关于携带CPE-ALK融合的ASC患者对阿来替尼产生显著肿瘤反应的报道。此外,靶向NGS分析可能会改善常规实践中ALK融合的检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/3a6a4b53f4ee/fonc-12-998545-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/fdf2da8dbfa4/fonc-12-998545-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/f2ba6e1db10a/fonc-12-998545-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/3a6a4b53f4ee/fonc-12-998545-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/fdf2da8dbfa4/fonc-12-998545-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/f2ba6e1db10a/fonc-12-998545-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/10111186/3a6a4b53f4ee/fonc-12-998545-g003.jpg

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