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通过 DNA 测序鉴定的一个早期肺腺癌中的基因间区域 ALK 融合,并通过免疫组化进行验证。

An intergenic region ALK fusion identified by DNA sequencing and validated by IHC in an early-stage lung adenocarcinoma.

机构信息

Department of Thoracic Surgery, Shaanxi Provincial People's Hospital, Xi'an, Shaanxi, 710068, People's Republic of China.

State Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, People's Republic of China.

出版信息

J Cancer Res Clin Oncol. 2021 Jun;147(6):1865-1867. doi: 10.1007/s00432-021-03526-5. Epub 2021 Feb 5.

DOI:10.1007/s00432-021-03526-5
PMID:33544200
Abstract

Anaplastic Lymphoma Kinase (ALK) fusion is an important driver mutation and therapeutic target. At present, more than 20 fusion partners for ALK in NSCLC have been reported. However, ALK intergenic-breakpoint fusions confound fusion detection and target treatment. Here, we reported a 53-year-old early-stage lung adenocarcinoma patient with an MIR548AD-ALK intergenic fusion and was verified by immunohistochemical staining (IHC). In early-stage NSCLC, compared with other clinically relevant driver mutations, ALK fusions were associated with a trend toward poor disease outcomes. Our Next-generation sequencing (NGS) and IHC results may indicate the prognosis of the patient and provide an alternative treatment option for postoperative recurrence.

摘要

间变性淋巴瘤激酶(ALK)融合是一个重要的驱动突变和治疗靶点。目前,已有超过 20 种非小细胞肺癌(NSCLC)中 ALK 的融合伙伴被报道。然而,ALK 基因间断裂点融合会干扰融合检测和靶向治疗。在这里,我们报道了一例 53 岁早期肺腺癌患者存在 MIR548AD-ALK 基因间融合,该融合通过免疫组织化学染色(IHC)得到验证。在早期 NSCLC 中,与其他具有临床相关性的驱动基因突变相比,ALK 融合与疾病结局不良呈趋势相关。我们的下一代测序(NGS)和 IHC 结果可能提示患者的预后,并为术后复发提供了一种替代的治疗选择。

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J Thorac Oncol. 2020 Jul;15(7):1223-1231. doi: 10.1016/j.jtho.2020.02.023. Epub 2020 Mar 7.
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