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肺大细胞神经内分泌癌的EML4-ALK重排:一例报告

EML4-ALK rearrangement of lung large cell neuroendocrine carcinoma: a case report.

作者信息

Chen Dianjun, Ma Shuangyue, Sun Lili, Lang Yuehong, Yang Boyan

机构信息

Department of Comprehensive Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital and Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.

Department of Comprehensive Oncology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Ann Transl Med. 2023 Jan 31;11(2):134. doi: 10.21037/atm-22-6062. Epub 2023 Jan 11.

Abstract

BACKGROUND

Lung large cell neuroendocrine carcinoma (L-LCNEC) is a subtype of lung cancer with a low incidence and a high degree of malignancy. For early stage patients, surgical treatment is limited, and the risk of postoperative recurrence is high. For patients with unresectable or advanced disease, platinum-based chemotherapy is currently the mainstay of treatment, but its efficacy is unsatisfactory. L-LCNEC with the anaplastic lymphoma kinase (ALK) gene mutation is very rare and currently has no standard therapy. In this article, we report the case of a locally advanced L-LCNEC patient with ALK mutations who underwent first-line treatment with alectinib.

CASE DESCRIPTION

A previously healthy, 46-year-old, non-smoking woman was clinically diagnosed with unresectable locally advanced L-LCNEC. Next generation sequencing (NGS) of the patient's plasma and tumor specimen showed echinoderm microtubule-associated protein-like 4 (EML-4) (exon 13)-ALK (exon 20) fusion with a mutation frequency of 14.48% and 15.37%. The patient refused chemotherapy, and received first-line treatment with alectinib 600 mg, bis in die (bid), per day. After taking alectinib for 1 month, the patient's chest enhanced computed tomography (CT) scan showed a partial response (PR). After 12 months of treatment with alectinib, a radiological evaluation showed that the patient had maintained the PR. A grade 2-3 rash was observed at the beginning of the treatment. After symptomatic treatment, the rash disappeared, and the side effects were fully tolerated. At present, the patient can work normally, has a performance status of 0 and has not experience any major adverse events.

CONCLUSIONS

Our case suggests that the first-line use of targeted therapy is also a good choice for L-LCNEC patients of stage III with gene mutations. The side effects are light, the patient can tolerate well, and the quality of life of can be improved.

摘要

背景

肺大细胞神经内分泌癌(L-LCNEC)是肺癌的一种亚型,发病率低但恶性程度高。对于早期患者,手术治疗受限,术后复发风险高。对于不可切除或晚期疾病患者,铂类化疗是目前的主要治疗方法,但其疗效并不理想。具有间变性淋巴瘤激酶(ALK)基因突变的L-LCNEC非常罕见,目前尚无标准治疗方法。在本文中,我们报告了1例局部晚期ALK突变的L-LCNEC患者接受阿来替尼一线治疗的病例。

病例描述

一名既往健康、46岁、不吸烟的女性临床诊断为不可切除的局部晚期L-LCNEC。对患者的血浆和肿瘤标本进行二代测序(NGS)显示,棘皮动物微管相关蛋白样4(EML-4)(外显子13)-ALK(外显子20)融合,突变频率分别为14.48%和15.37%。患者拒绝化疗,接受阿来替尼600 mg,每日两次(bid)一线治疗。服用阿来替尼1个月后,患者胸部增强计算机断层扫描(CT)显示部分缓解(PR)。阿来替尼治疗12个月后,影像学评估显示患者维持PR状态。治疗开始时观察到2-3级皮疹。对症治疗后,皮疹消失,副作用完全可耐受。目前,患者可正常工作,体能状态为0,未经历任何重大不良事件。

结论

我们的病例表明,对于III期基因突变的L-LCNEC患者,一线使用靶向治疗也是一个不错的选择。副作用轻,患者耐受性好,可提高生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d97e/9929752/f58d5245c24d/atm-11-02-134-f1.jpg

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