首页|阿来替尼治疗携带不同新型ALK基因融合的非小细胞肺癌2例

阿来替尼治疗携带不同新型ALK基因融合的非小细胞肺癌2例

扫码查看
间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)基因的融合突变已被广泛认为是治疗非小细胞肺癌(non-small cell lung carcinoma,NSCLC)的有效靶点.中南大学湘雅二医院收治2例携带不同新型ALK基因融合的NSCLC患者.病例1为55岁男性,肺部增强CT显示右肺门实性结节.病例2为47岁女性,肺部增强CT显示左肺上叶受累.肿瘤组织病理切片诊断均为肺腺癌.免疫组织化学染色结果显示:肿瘤细胞中甲状腺转录因子-1(thyroid transcription factor-1,TTF-1)和 ALK-D5F3 呈阳性,而 P40 呈阴性.二代测序(next-generation sequencing,NGS)结果显示:病例 1、病例2分别存在PNPT1-ALK(Exon22:Exon20)、TCEAL2-ALK(Exon3:Exon19)融合.TCEAL2-ALK融合变体经突变阻滞扩增系统(Amplification Refractory Mutation System,ARMS)-PCR在mRNA水平上也得到证实.2名患者接受口服阿来替尼治疗,剂量为600 mg,每天2次.治疗后,2名患者的肿瘤均显著缩小,达到部分缓解,目前未出现疾病进展,无进展生存期已超过1年.对携带PNPT1-ALK(Exon22:Exon20)融合或TCEAL2-ALK(Exon3:Exon19)融合的NSCLC患者给予阿来替尼靶向治疗,可获得良好的治疗效果.本研究拓宽了ALK融合变体库,有利于ALK-酪氨酸激酶抑制剂的精准治疗.
Alectinib treatment for 2 non-small cell lung carcinoma patients carrying different novel ALK fusions
The genomic fusions of the anaplastic lymphoma kinase(ALK)gene have been widely recognized as effective therapeutic targets for non-small cell lung carcinoma(NSCLC).The Second Xiangya Hospital of Central South University has treated 2 NSCLC patients with 2 distinct novel ALK gene fusions.Case 1 was a 55-year-old male with a solid nodule located in the right hilar lobe on enhanced CT scan.Case 2 was a 47-year-old female with enhanced CT showing involvement of the left upper lobe of lung.Histopathological examination of tumor tissues confirmed lung adenocarcinoma in both cases.Immunohistochemical(IHC)staining demonstrated positivity for thyroid transcription factor-1(TTF-1)and ALK-D5F3 in tumor cells,while negativity for P40.The next-generation sequencing(NGS)tests identified a PNPT1-ALK(Exon22:Exon20)fusion variant in case 1 and a TCEAL2-ALK(Exon3:Exon19)fusion variant in case 2.The TCEAL2-ALK fusion was further confirmed by amplification refractory mutation system(ARMS)-PCR at the mRNA level.Both patients were treated with oral alectinib at a dosage of 600 mg twice daily.The tumors in both patients were significantly decreased after alectinib treatment,achieving partial response.At the time of submission,there was an absence of disease progression and the progression-free survival(PFS)had surpassed 1 year.It offered compelling evidences that the individuals with NSCLC and harboring either a PNPT1-ALK(Exon22:Exon20)fusion or a TCEAL2-ALK(Exon3:Exon19)fusion,experience favorable therapeutic outcomes through the administration of alectinib.This study expands the known ALK fusion variants database and supports the precision treatment of NSCLC using ALK tyrosine kinase inhibitors(TKIs).

non-small cell lung carcinomaalectinibALK gene fusionnext-generation sequencing

梁青春、李娜梅、李小红

展开 >

中南大学湘雅二医院病理科,长沙 410011

湖南省肿瘤致病基因检测与诊断临床医学研究中心,长沙 410011

非小细胞肺癌 阿来替尼 ALK基因融合 二代测序

2024

中南大学学报(医学版)
中南大学

中南大学学报(医学版)

CSTPCD北大核心
影响因子:1.459
ISSN:1672-7347
年,卷(期):2024.49(7)