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肺腺癌病例,携带有 EGFR 基因突变和 EML4-ALK 融合基因。

A case of lung adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene.

机构信息

Hirosaki University Graduate School of Medicine, Course of Medical Sciences, Cardiology, Respiratory Medicine and Nephrology, Zaifu-cho 5, Hirosaki 036-8562, Japan.

出版信息

BMC Cancer. 2012 Nov 26;12:558. doi: 10.1186/1471-2407-12-558.

Abstract

BACKGROUND

Lung cancer is the leading cause of cancer-related death worldwide. Epidermal growth factor receptor (EGFR)--tyrosine kinase inhibitor (TKI) is used for the patients with EGFR-mutant lung cancer. Recently, phase III studies in the patients with EGFR-mutant demonstrated that EGFR-TKI monotherapy improved progression-free survival compared with platinum-doublet chemotherapy. The echinoderm microtubule-associated protein-like 4 (EML4)--anaplastic lymphoma kinase (ALK) fusion oncogene represents one of the newest molecular targets in non-small cell lung cancer (NSCLC). Patients who harbor EML4-ALK fusions have been associated with a lack of EGFR or KRAS mutations.

CASE PRESENTATION

We report a 39-year-old patient diagnosed as adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene. We treated this patient with erlotinib as the third line therapy, but no clinical benefit was obtained.

CONCLUSION

We experienced a rare case with EGFR mutation and EML4-ALK. Any clinical benefit using EGFR-TKI was not obtained in our case. The therapeutic choice for the patients with more than one driver mutations is unclear. We needs further understanding of the lung cancer molecular biology and the biomarker information.

摘要

背景

肺癌是全球癌症相关死亡的主要原因。表皮生长因子受体(EGFR)-酪氨酸激酶抑制剂(TKI)用于治疗 EGFR 突变型肺癌患者。最近,EGFR 突变型患者的 III 期研究表明,与铂类双联化疗相比,EGFR-TKI 单药治疗可改善无进展生存期。棘皮动物微管相关蛋白样 4(EML4)-间变性淋巴瘤激酶(ALK)融合癌基因是非小细胞肺癌(NSCLC)的最新分子靶点之一。携带 EML4-ALK 融合的患者与缺乏 EGFR 或 KRAS 突变有关。

病例介绍

我们报告了一例 39 岁的患者,诊断为腺癌,携带 EGFR 突变和 EML4-ALK 融合基因。我们用厄洛替尼作为三线治疗,但没有获得临床获益。

结论

我们遇到了一个罕见的 EGFR 突变和 EML4-ALK 病例。我们的病例中,使用 EGFR-TKI 没有获得任何临床获益。对于存在多个驱动基因突变的患者,治疗选择尚不清楚。我们需要进一步了解肺癌的分子生物学和生物标志物信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c6c/3515412/270548570e38/1471-2407-12-558-1.jpg

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