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一名转移性肺腺癌患者中存在新型 SOS1-ALK 融合变体,对克唑替尼有显著反应。

A novel SOS1-ALK fusion variant in a patient with metastatic lung adenocarcinoma and a remarkable response to crizotinib.

机构信息

Department of Thoracic Disease Diagnosis and Treatment Center, Zhejiang Rongjun Hospital,The Third Affiliated Hospital of Jiaxing University, Jiaxing Zhejiang 314000, People's Republic of China.

Department of Chemotherapy, Zhejiang Cancer Hospital, Hangzhou Zhejiang 310022, People's Republic of China.

出版信息

Lung Cancer. 2020 Apr;142:59-62. doi: 10.1016/j.lungcan.2020.02.012. Epub 2020 Feb 21.

Abstract

OBJECTIVES

Transforming anaplastic lymphoma kinase (ALK) gene rearrangements are well known as a unique subset of non-small cell lung cancer (NSCLC) with mutations other than EGFR. Currently, crizotinib is the standard first-line treatment for ALK-positive NSCLC.

MATERIALS AND METHODS

With advances in detection methods, more and more uncommon ALK fusion partners have been identified. Herein we present a novel SOS1-ALK fusion and the efficacy of crizotinib in an advanced NSCLC patient harboring this type of fusion.

RESULTS

A 52-year-old Chinese man had left upper lobe primary NSCLC and synchronous multiple lung metastases (cT2N3M1, stage IV). The ultrasound-guided fine-needle aspiration cytology of palpable left supraclavicular lymph nodes and the results of immunohistochemistry staining supported the diagnosis of metastatic lung adenocarcinoma. Using a next-generation sequencing assay (NGS), we showed that the tumor had a SOS1-ALK fusion which the breakpoints was (S2, A20) rather than other actionable mutations. Therefore, the patient received first-line crizotinib and experienced a remarkable tumor response and has tolerated crizotinib well until this writing.

CONCLUSION

Considering this rare SOS1-ALK fusion and remarkable response to an ALK-inhibitor, it is important to be aware of the presence of SOS1-ALK fusions in patients with advanced NSCLC to better guide targeted therapy. Precision methods, such as NGS for oncogenic alteration detection, should also be encouraged in clinical practice.

摘要

目的

间变性淋巴瘤激酶(ALK)基因重排是一种独特的非小细胞肺癌(NSCLC)亚型,其突变不同于 EGFR。目前,克唑替尼是治疗 ALK 阳性 NSCLC 的标准一线治疗药物。

材料和方法

随着检测方法的进步,越来越多的不常见的 ALK 融合伙伴被发现。在此,我们介绍了一种新型 SOS1-ALK 融合,并报告了一例携带该融合的晚期 NSCLC 患者接受克唑替尼治疗的疗效。

结果

一名 52 岁的中国男性患有左肺上叶原发性 NSCLC 和同步多发肺转移(cT2N3M1,IV 期)。触诊左锁骨上淋巴结的超声引导细针穿刺细胞学和免疫组织化学染色结果支持转移性肺腺癌的诊断。使用下一代测序检测(NGS),我们发现肿瘤存在 SOS1-ALK 融合,其断点为(S2,A20),而不是其他可操作的突变。因此,该患者接受了一线克唑替尼治疗,并获得了显著的肿瘤缓解,且在此次报告时仍能耐受克唑替尼。

结论

考虑到这种罕见的 SOS1-ALK 融合和对 ALK 抑制剂的显著反应,在晚期 NSCLC 患者中注意到 SOS1-ALK 融合的存在对于更好地指导靶向治疗非常重要。在临床实践中,也应鼓励使用 NGS 等精准方法检测致癌基因改变。

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