Szumera-Ciećkiewicz Anna, Olszewski Włodzimierz T, Tysarowski Andrzej, Kowalski Dariusz M, Głogowski Maciej, Krzakowski Maciej, Siedlecki Janusz A, Wągrodzki Michał, Prochorec-Sobieszek Monika
Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine Warsaw ; Department of Pathology, Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology Warsaw.
Int J Clin Exp Pathol. 2013 Nov 15;6(12):2800-12. eCollection 2013.
The targeted treatment of advanced non-small-cell lung cancer (NSCLC) depends on confirmation of activating somatic EGFR mutation. The aim of the study was to evaluate the incidence of EGFR mutations in NSCLC detected in cytological and histological material and present literature review on European EGFR mutation incidence. 273 patients with confirmed NSCLC were entered into the study: 189 histological, paraffin-embedded materials, 12 fresh and 72 fixed cytological specimens. DNA was extracted from both types of material and the EGFR mutation in exons 18-21 was analyzed by direct sequencing. In addition the EGFR gene copy number in cases with sufficient histological material (110 patients) was evaluated by fluorescent in situ hybridization (FISH) technique. The percentage of EGFR somatic mutations was 10.62%. FISH positive results (amplification or high polysomy of EGFR gene) were identified in 33 patients (30.0%). The strongest clinicopathological correlation with the EGFR mutation was found for histological type (adenocarcinoma; p < 0.01), gender (females; p < 0.01) and FISH positive result (p < 0.05). This is the first, single institution study that estimates the EGFR mutation incidence in the Polish population. Cytological material recovered from fixed preparations and stained with hematoxylin and eosin showed DNA quality comparable to fresh tumor cells and histological samples.
晚期非小细胞肺癌（NSCLC）的靶向治疗取决于激活型体细胞EGFR突变的确认。本研究的目的是评估在细胞学和组织学材料中检测到的NSCLC中EGFR突变的发生率，并对欧洲EGFR突变发生率进行文献综述。273例确诊为NSCLC的患者纳入本研究：189例组织学石蜡包埋材料、12例新鲜标本和72例固定细胞学标本。从这两种材料中提取DNA，并通过直接测序分析外显子18 - 21中的EGFR突变。此外，采用荧光原位杂交（FISH）技术对有足够组织学材料的病例（110例患者）进行EGFR基因拷贝数评估。EGFR体细胞突变的百分比为10.62%。33例患者（30.0%）FISH检测结果呈阳性（EGFR基因扩增或高多体性）。EGFR突变与组织学类型（腺癌；p < 0.01）、性别（女性；p < 0.01）和FISH阳性结果（p < 0.05）之间存在最强的临床病理相关性。这是第一项在波兰人群中评估EGFR突变发生率的单机构研究。从固定制剂中回收并用苏木精和伊红染色的细胞学材料显示，其DNA质量与新鲜肿瘤细胞和组织学样本相当。
