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检测一位重度吸烟的肺鳞癌患者呼出气冷凝液中的 EGFR 突变。

Detection of the EGFR mutation in exhaled breath condensate from a heavy smoker with squamous cell carcinoma of the lung.

机构信息

Department of Hematology, Oncology and Respiratory Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan.

出版信息

Lung Cancer. 2011 Sep;73(3):379-80. doi: 10.1016/j.lungcan.2011.05.018.

DOI:10.1016/j.lungcan.2011.05.018
PMID:21684624
Abstract

A 61-year-old male smoker (40 pack-years) presented with right chest pain. Computed tomography of the chest revealed a cavitary mass in the right lower lobe. A transbronchial biopsy showed squamous cell carcinoma. We examined epidermal growth factor receptor (EGFR) mutations in exhaled breath condensate (EBC). The DNA extracted from his EBC showed a deletion mutation in exon 19. Subsequently, the del E746-A750 mutation in exon 19 in a transbronchial tissue specimen was confirmed. Although he underwent whole-brain irradiation against multiple brain metastases, he had paralysis of the left side of the body and his performance status was 3. The patient was treated with gefitinib. He had marked tumor regression and no symptoms. Although only a small percentage of heavy smokers with squamous cell carcinoma harbor EGFR mutations, they probably benefit from EGFR-tyrosine kinase inhibitors. EGFR mutation status in the patients having such clinical features might be examined.

摘要

一位 61 岁的男性吸烟者(40 包年)出现右侧胸痛。胸部计算机断层扫描显示右下肺叶有空腔肿块。经支气管活检显示为鳞状细胞癌。我们检测了呼出气冷凝液(EBC)中的表皮生长因子受体(EGFR)突变。从他的 EBC 中提取的 DNA 显示外显子 19 缺失突变。随后,在经支气管组织标本中证实了外显子 19 中的 del E746-A750 突变。尽管他接受了针对多发脑转移的全脑放疗,但他仍出现左侧肢体瘫痪,表现状态为 3 级。该患者接受了吉非替尼治疗。他的肿瘤明显缩小,且没有症状。尽管只有一小部分重度吸烟的鳞状细胞癌患者携带有 EGFR 突变,但他们可能从 EGFR-酪氨酸激酶抑制剂中获益。可能需要检查具有此类临床特征的患者的 EGFR 突变状态。

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