一名对克唑替尼联合培美曲塞治疗有反应的肺腺癌患者的新型基因间区（chr2: 30,316,870）-ALK融合：病例报告

IF 2.7 4区医学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

OncoTargets and therapy Pub Date : 2024-03-27 DOI:10.2147/ott.s444624

Danfei Zhou, Jun Ying, Shanshan Hu, Jiangdong Li, Haijian Liu

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引用次数: 0

摘要

背景：据报道，在5-7%的非小细胞肺癌（NSCLC）患者中，无性淋巴瘤激酶（ALK）重排是一种重要的致癌驱动因素。有关基因间区（IGR）作为ALK融合伙伴的报道并不多见。在本研究中，我们报告了一名晚期肺腺癌患者的新型IGR（chr2: 30,316,870）-ALK融合，该患者对克唑替尼联合培美曲塞治疗反应有效：一位68岁的中国女性被诊断为右肺腺癌IV期（cT3N3M1c）。14个癌症相关基因的靶向新一代测序（NGS）发现了一个IGR（chr2: 30,316,870）-ALK融合基因。在服用克唑替尼一年并结合培美曲塞化疗 6 个周期后，她的肺部病变已成功从部分应答转为完全应答。到目前为止，她的无进展生存期已达 21 个月：在本病例中，我们首次利用靶向 NGS 报告了一种新型 IGR（chr2: 30,316,870）-ALK 融合，并强调了克唑替尼联合培美曲塞治疗对减少难以忍受的胃肠道不良反应的疗效。这为今后治疗类似病例提供了宝贵的临床指导。

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A Novel Intergenic Region (chr2: 30,316,870)-ALK Fusion in a Patient with Lung Adenocarcinoma Responding to Crizotinib Combined with Pemetrexed Treatment: A Case Report

Background: Anaplastic lymphoma kinase (ALK) rearrangements have been reported as an important oncogenic driver in 5– 7% non-small cell lung cancer (NSCLC) patients. Reports about the intergenic region (IGR) as an ALK fusion partner are rare. In this study, we report a novel IGR (chr2: 30,316,870)-ALK fusion in an advanced lung adenocarcinoma patient that responded effectively to crizotinib combined with pemetrexed.
Case Presentation: A 68-year-old Chinese female was diagnosed with stage IV right lung adenocarcinoma (cT3N3M1c). The targeted next-generation sequencing (NGS) of 14 cancer-related genes identified an IGR (chr2: 30,316,870)-ALK fusion. Her lung lesions have been successfully converted from a partial response to a complete response after administrating crizotinib for 1 year combined with 6 cycles of chemotherapy with pemetrexed. So far, her progression-free-survival has reached 21 months.
Conclusion: In this case, we firstly report a novel IGR (chr2: 30,316,870)-ALK fusion by using targeted NGS, and highlight the efficacy of crizotinib combined with pemetrexed to reduce unbearable gastrointestinal adverse reactions. It provides valuable clinical guidance for the treatment of similar cases in the future.

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来源期刊

OncoTargets and therapy BIOTECHNOLOGY & APPLIED MICROBIOLOGY-ONCOLOGY

CiteScore

9.70

自引率

0.00%

发文量

221

审稿时长

1 months

期刊介绍： OncoTargets and Therapy is an international, peer-reviewed journal focusing on molecular aspects of cancer research, that is, the molecular diagnosis of and targeted molecular or precision therapy for all types of cancer. The journal is characterized by the rapid reporting of high-quality original research, basic science, reviews and evaluations, expert opinion and commentary that shed novel insight on a cancer or cancer subtype. Specific topics covered by the journal include: -Novel therapeutic targets and innovative agents -Novel therapeutic regimens for improved benefit and/or decreased side effects -Early stage clinical trials Further considerations when submitting to OncoTargets and Therapy: -Studies containing in vivo animal model data will be considered favorably. -Tissue microarray analyses will not be considered except in cases where they are supported by comprehensive biological studies involving multiple cell lines. -Biomarker association studies will be considered only when validated by comprehensive in vitro data and analysis of human tissue samples. -Studies utilizing publicly available data (e.g. GWAS/TCGA/GEO etc.) should add to the body of knowledge about a specific disease or relevant phenotype and must be validated using the authors’ own data through replication in an independent sample set and functional follow-up. -Bioinformatics studies must be validated using the authors’ own data through replication in an independent sample set and functional follow-up. -Single nucleotide polymorphism (SNP) studies will not be considered.