Unidad de Investigación, Hospital General Yagüe, Avenida del Cid 96, Burgos, Spain.
Mol Biol Rep. 2011 Feb;38(2):1347-51. doi: 10.1007/s11033-010-0236-6. Epub 2010 Jun 23.
The objective of the work was to study PIK3CA mutations in wild type KRAS and BRAF colorectal cancer. Clinicopathological data and paraffin-embedded specimens were collected on 73 patients who underwent colorectal resections at General Yagüe Hospital in Burgos. KRAS, BRAF and PIK3CA status were analyzed by real-time PCR in all patients. PIK3CA mutations were present in 8.22% of wild type KRAS and BRAF colorectal cancers. The most frequent mutation is E545K/D in exon 9 which represents 83.3% of all mutations. By contrast, we did not found any tumour harbouring H1047R mutation in exon 20. Among the patients who undergo a curative resection of colorectal cancer, PIK3CA mutation is present in an important percentage of KRAS and BRAF wild type tumours. PIK3CA mutation may be considered as it could be a hypothetic reason to be not responder to anti-EGFR antibodies.
本研究旨在分析 KRAS 和 BRAF 野生型结直肠癌中 PIK3CA 突变情况。收集了在布尔戈斯雅盖尔综合医院接受结直肠切除术的 73 名患者的临床病理数据和石蜡包埋标本。对所有患者均采用实时 PCR 法检测 KRAS、BRAF 和 PIK3CA 状态。KRAS 和 BRAF 野生型结直肠癌中 PIK3CA 突变率为 8.22%。最常见的突变是 9 号外显子的 E545K/D，占所有突变的 83.3%。相反，我们在 20 号外显子中未发现任何 H1047R 突变的肿瘤。在接受结直肠癌根治性切除术的患者中，KRAS 和 BRAF 野生型肿瘤中有一定比例存在 PIK3CA 突变。PIK3CA 突变可能是抗 EGFR 抗体治疗无应答的一个假说原因。
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