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肺腺癌中罕见的双重ALK融合变体EML4-ALK和CDK15-ALK及其对克唑替尼的反应:一例报告

A rare double ALK fusion variant EML4-ALK and CDK15-ALK in lung adenocarcinoma and response to crizotinib: A case report.

作者信息

Guo Jun, Shi Junping, Yao Ming, Jin Yi, Liu Dengxiang, Liu Weiling, Wang Kai, Jiang Da

机构信息

Department of Internal Medicine-Oncology, Xingtai People's Hospital, Xingtai, Hebei Province, China.

OrigiMed Co. Ltd, Shanghai, China.

出版信息

Medicine (Baltimore). 2020 Nov 6;99(45):e22631. doi: 10.1097/MD.0000000000022631.

Abstract

RATIONALE

The anaplastic lymphoma kinase (ALK) fusion has been identified to be a driver gene in lung cancer, and serves as important diagnostic and therapeutic targets. Owing to the advanced sequencing technologies, new partner genes of ALK have been constantly detected.

PATIENT CONCERNS

A 55-year-old Chinese woman went to our hospital because of cough and expectoration for 1 year. The patient had no fever, chest pain and hemoptysis.

DIAGNOSES

She was diagnosed with lung adenocarcinoma. Because she had no operational condition, combination chemotherapy with docetaxel and cisplatin (CP) for 4 cycles was adopted. However, computed tomography (CT) scan indicated progression disease (PD). To explore possibility of targeted therapy, the tumor samples were subjected to next-generation sequencing (NGS), and a rare double ALK fusion variant EML4-ALK and CDK15-ALK was identified.

INTERVENTIONS AND OUTCOMES

The patient subsequently received crizotinib treatment, and achieved partial response (PR). No significant drug related adverse reactions were found during crizotinib treatment. The progression-free survival achieved 23 months.

LESSONS

Together, we identified a rare double ALK fusion variant, EML4-ALK and CDK15-ALK, in a patient with lung adenocarcinoma. The patient benefited from crizotinib treatment, which could provide a certain reference for the patients with such gene alteration.

摘要

原理

间变性淋巴瘤激酶(ALK)融合已被确定为肺癌中的驱动基因,并作为重要的诊断和治疗靶点。由于先进的测序技术,ALK的新伙伴基因不断被检测到。

患者情况

一名55岁中国女性因咳嗽咳痰1年前来我院。患者无发热、胸痛及咯血症状。

诊断

她被诊断为肺腺癌。因无手术条件,采用多西他赛联合顺铂(CP)方案化疗4周期。然而,计算机断层扫描(CT)显示疾病进展(PD)。为探索靶向治疗的可能性,对肿瘤样本进行二代测序(NGS),发现一种罕见的双ALK融合变异体EML4-ALK和CDK15-ALK。

干预措施及结果

患者随后接受克唑替尼治疗,获得部分缓解(PR)。克唑替尼治疗期间未发现明显的药物相关不良反应。无进展生存期达23个月。

经验教训

我们共同在一名肺腺癌患者中发现了一种罕见的双ALK融合变异体EML4-ALK和CDK15-ALK。该患者从克唑替尼治疗中获益,可为有此类基因改变的患者提供一定参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b468/7647588/5ddf864df63e/medi-99-e22631-g001.jpg

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