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同时诊断的肺腺癌和支气管内炎症性肌纤维母细胞瘤伴两种不同类型的 ALK 易位 1 例

A Case of Simultaneously Diagnosed Lung Adenocarcinoma and Endobronchial Inflammatory Myofibroblastic Tumor with Two Distinct Types of ALK Translocation.

机构信息

Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.

Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin, China.

出版信息

Cancer Res Treat. 2021 Apr;53(2):601-606. doi: 10.4143/crt.2020.952. Epub 2020 Oct 21.

Abstract

A 61-year-old male patient was simultaneously diagnosed with lung adenocarcinoma and inflammatory myofibroblastic tumor (IMT). The lung adenocarcinoma and IMT harbored two distinct types of ALK translocation, LOC101927285-ALK, and TPM3-ALK, respectively. The ALK Ventana showed strong positivity on both lesions. The patient was therefore given an endobronchial cryotherapy and ALK inhibitor crizotinib. The tumors showed durable response however the left lung adenocarcinoma relapsed at 17th month post-crizotinib treatment. Tissue re-biopsy on the resistant tumor revealed an ALK exon 23 C1156Y missense mutation in addition to LOC101927285-ALK mutation. Further RNA-based sequence uncovered that the noncoding region rearrangement is the fusion mutation of EML4-ALK. The patient was therefore received alectinib, and the tumor exhibited partly response. Overall, it is very rare that two types of pulmonary tumors exist in one patient driven by two distinct ALK fusions, which emphasizes the necessity of gene sequencing in clinical decision-making and individualized therapy.

摘要

一位 61 岁男性患者同时被诊断出患有肺腺癌和炎性肌纤维母细胞瘤(IMT)。肺腺癌和 IMT 分别携带两种不同类型的 ALK 易位,即 LOC101927285-ALK 和 TPM3-ALK。ALK Ventana 在两个病变部位均表现出强烈的阳性。因此,患者接受了支气管内冷冻治疗和 ALK 抑制剂克唑替尼治疗。肿瘤显示出持久的缓解,但在克唑替尼治疗后 17 个月,左肺腺癌复发。对耐药肿瘤的组织再次活检显示除了 LOC101927285-ALK 突变外,还存在 ALK 外显子 23 C1156Y 错义突变。进一步的基于 RNA 的序列分析揭示了非编码区重排是 EML4-ALK 的融合突变。患者随后接受了阿来替尼治疗,肿瘤显示部分缓解。总的来说,非常罕见的是,两种类型的肺部肿瘤存在于一个患者中,由两种不同的 ALK 融合驱动,这强调了在临床决策和个体化治疗中进行基因测序的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b94/8053870/fd5e4559e647/crt-2020-952f1.jpg

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