Bircan Sema, Baloglu Huseyin, Kucukodaci Zafer, Bircan Ahmet
Department of Pathology, School of Medicine, Suleyman Demirel University, Isparta, Turkey,
Med Oncol. 2014 Aug;31(8):87. doi: 10.1007/s12032-014-0087-4. Epub 2014 Jun 29.
EGFR and KRAS mutation profile in non-small cell lung cancers (NSCLCs) shows wide variations due to geographic and ethnic background. We aimed to determine the frequency and types of EGFR and KRAS mutations in a sample group of Turkish NSCLC cases. The study included 14 adenocarcinomas (ACs), 11 squamous cell carcinoma (SCC) patients selected from archival material including small biopsy or surgical specimens. Their formalin fixed paraffin-embedded tumor tissues were used for genomic DNA extraction for EGFR exon 19 and 21, and KRAS exon 2 mutations. Eleven NSCLCs (44 %) had EGFR mutations. Exon 19 and 21 mutations were found in 8 (32 %) and 5 (20 %) cases. Two cases showed double EGFR mutations. In ACs, 5 (35.7 %) patients had EGFR gene mutation, 3 in exon 19 and 3 in exon 21. In SCCs, 6 (54.5 %) cases had EGFR mutation, 5 in exon 19 and 2 in exon 21. All exon 19 mutations were deletion-type mutations. For exon 21, 3 cases had L858R point mutation (CTG>CGG) and two cases showed deletion-type mutations. Six (24 %) NSCLCs showed KRAS mutations (three ACC, three SCC), 5 codon 12 mutations (G>T, T>C, G>A) and one codon 13 mutation (G>T). Three NSCLC cases showed both EGFR and KRAS mutations together. The profile of KRAS mutation in our AC cases was quite similar to those seen in the Western countries; however, frequency and clustering of EGFR mutations were similar to those seen in the Eastern countries.
由于地理和种族背景的差异，非小细胞肺癌（NSCLC）中表皮生长因子受体（EGFR）和 Kirsten 大鼠肉瘤病毒癌基因（KRAS）的突变情况存在很大差异。我们旨在确定一组土耳其 NSCLC 病例样本中 EGFR 和 KRAS 突变的频率及类型。该研究纳入了 14 例腺癌（AC）和 11 例鳞状细胞癌（SCC）患者，这些患者选自存档材料，包括小活检或手术标本。他们经福尔马林固定、石蜡包埋的肿瘤组织用于提取基因组 DNA，以检测 EGFR 第 19 和 21 外显子以及 KRAS 第 2 外显子的突变情况。11 例 NSCLC（44%）存在 EGFR 突变。在 8 例（32%）和 5 例（20%）病例中分别发现了第 19 和 21 外显子突变。2 例显示存在双重 EGFR 突变。在腺癌中，5 例（35.7%）患者存在 EGFR 基因突变，其中 3 例为第 19 外显子突变，3 例为第 21 外显子突变。在鳞状细胞癌中，6 例（54.5%）病例存在 EGFR 突变，5 例为第 19 外显子突变，2 例为第 21 外显子突变。所有第 19 外显子突变均为缺失型突变。对于第 21 外显子，3 例存在 L858R 点突变（CTG>CGG），2 例显示为缺失型突变。6 例（24%）NSCLC 显示存在 KRAS 突变（3 例腺癌、3 例鳞状细胞癌），5 例为密码子 12 突变（G>T、T>C、G>A），1 例为密码子 13 突变（G>T）。3 例 NSCLC 病例同时显示存在 EGFR 和 KRAS 突变。我们腺癌病例中的 KRAS 突变情况与西方国家所见相当相似；然而，EGFR 突变的频率和聚集情况与东方国家所见相似。
