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首页> 外文期刊>Urologic oncology >EGFR mutation in kidney carcinoma confers sensitivity to gefitinib treatment: a case report.
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EGFR mutation in kidney carcinoma confers sensitivity to gefitinib treatment: a case report.

机译：肾癌中的EGFR突变赋予对吉非替尼治疗敏感的病例报告。

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Mutations of the epidermal growth factor receptor (EGFR) gene are known to be associated with the pronounced tumor response to EGFR tyrosine kinase inhibitors (TKI). Unfortunately, these TKI-sensitizing alterations have been detected almost exclusively in lung adenocarcinomas; indeed, their occurrence in tumors of other histologic types or other organs is exceptionally rare. Here we report a case of intragenic EGFR microdeletion in renal cell carcinoma (RCC) associated with the effect of treatment by gefitinib. Patient G., 60 years old, underwent radical surgery for clear cell RCC, however local relapse and metastatic lesions in the lungs were revealed 33 months later. The patient was successfully treated by interleukin-2 (first line therapy), tamoxifen (second line), and interferon-alpha (third line). After disease progression, EGFR mutation test was performed as a compassionate attempt. It revealed "classical" 15 base pair deletion, so gefitinib was administered. This treatment led to a dramatic symptomatic response within the first week of therapy; reduction of dyspnea was so evident that it allowed the patient to return to work. Clinical examination demonstrated significant improvement with respect to pleuritis and pericarditis. The duration of tumor response, which was classified as disease stabilization, was equal to 4 months. This case report suggests that kidney tumors have to be investigated more closely with respect to the occurrence of TKI-sensitizing EGFR mutations.
机译：已知表皮生长因子受体（EGFR）基因的突变与对EGFR酪氨酸激酶抑制剂（TKI）的明显肿瘤反应有关。不幸的是，这些TKI致敏性改变几乎仅在肺腺癌中被发现。实际上，它们在其他组织学类型或其他器官的肿瘤中的发生极为罕见。在这里，我们报道了与吉非替尼治疗效果相关的肾细胞癌（RCC）基因内EGFR微缺失病例。 60岁的G.患者接受了根治性手术治疗透明细胞RCC，但是33个月后发现了局部复发和肺转移灶。该患者已通过白细胞介素2（一线治疗），他莫昔芬（第二线）和干扰素-α（第三线）成功治疗。疾病进展后，进行了EGFR突变测试，这是一种富有同情心的尝试。它揭示了“经典的” 15个碱基对的缺失，因此使用了吉非替尼。在治疗的第一周内，这种治疗导致了剧烈的症状反应。呼吸困难的减轻是如此明显，以至于患者可以重新工作。临床检查表明，在胸膜炎和心包炎方面有显着改善。被分类为疾病稳定的肿瘤反应持续时间等于4个月。该病例报告表明，对于TKI敏感性EGFR突变的发生，必须更仔细地研究肾脏肿瘤。

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