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德国队列的皮肤鳞状细胞癌中 EGFR 和 HRAS 突变的发生率较低。

Low incidence of EGFR and HRAS mutations in cutaneous squamous cell carcinomas of a German cohort.

出版信息

Exp Dermatol. 2011 Oct;20(10):848-50. doi: 10.1111/j.1600-0625.2011.01334.x. Epub 2011 Jul 19.

DOI:10.1111/j.1600-0625.2011.01334.x
PMID:21771097
Abstract

Epidermal growth factor receptor (EGFR) is highly expressed in squamous cell carcinoma (SCC). The response of patients with lung cancer to EGFR inhibitors is significantly associated with the presence of EGFR mutations. Although these drugs have already been used for the treatment of advanced cutaneous SCC, the knowledge about EGFR mutations in this cancer is limited to one previous study in the US population. We analysed the presence of EGFR and concomitant HRAS mutations in a German cohort of 31 patients with cutaneous SCC by direct sequencing of EGFR and SNaPshot analysis of concomitant RAS mutations. We found a low prevalence of EGFR mutations (1/31; 3%) and HRAS mutations (1/31; 3%). The detected P741L EGFR mutation was proven to be somatic. Our results indicate that both EGFR and HRAS mutations are rare events in the carcinogenesis of cutaneous SCC, and therefore, only a small subgroup of patients will benefit from the screening for EGFR mutations in the run-up to targeted therapies with EGFR inhibitors.

摘要

表皮生长因子受体(EGFR)在鳞状细胞癌(SCC)中高度表达。肺癌患者对 EGFR 抑制剂的反应与 EGFR 突变的存在显著相关。尽管这些药物已被用于治疗晚期皮肤 SCC,但有关该癌症中 EGFR 突变的知识仅限于美国人群中的一项先前研究。我们通过直接测序 EGFR 和 SNaPshot 分析伴随的 RAS 突变,分析了 31 例德国皮肤 SCC 患者中 EGFR 和伴随的 HRAS 突变的存在。我们发现 EGFR 突变(1/31;3%)和 HRAS 突变(1/31;3%)的发生率较低。检测到的 P741L EGFR 突变被证明是体细胞突变。我们的结果表明,EGFR 和 HRAS 突变在皮肤 SCC 的癌变过程中都是罕见事件,因此,只有一小部分患者将受益于 EGFR 抑制剂靶向治疗前进行 EGFR 突变筛查。

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