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首页> 外文期刊>The Journal of molecular diagnostics: JMD >KRAS, NRAS, PIK3CA exon 20, and BRAF genotypes in synchronous and metachronous primary colorectal cancers diagnostic and therapeutic implications.
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KRAS, NRAS, PIK3CA exon 20, and BRAF genotypes in synchronous and metachronous primary colorectal cancers diagnostic and therapeutic implications.

机译：KRAS，NRAS，PIK3CA外显子20和BRAF基因型在同步和异时原发性大肠癌中的诊断和治疗意义。

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Targeted therapy of advanced colorectal carcinoma (CRC) necessitates KRAS genotyping. Because we were interested in diagnostic and therapeutic consequences, we studied the KRAS, NRAS, PIK3CA exon 20, and BRAF genotypes in synchronous and metachronous primary CRCs; in addition, we studied their available metastases. We studied 21 patients with 43 synchronous and 2 metachronous adenocarcinomas of the colorectum (n = 20) and stomach (n = 1). Five patients had liver metastases and one had a distant lymph node metastasis. Genomic DNA was extracted from microdissected tumor tissue. The DNA was analyzed by Sanger sequencing and pyrosequencing. Fifty-seven different neoplastic lesions were genotyped, showing 18 (31.6%) KRAS, 2 (3.5%) NRAS, and 7 (12.3%) BRAF mutations, distributed among 10 (47.6%), 1 (4.8%), and 5 (23.8%) of the patients. An identical genotype of all synchronous primary CRCs was found only in 7 (35%) of the patients; the remainder had dissimilar genotypes in various combinations. Interestingly, a single patient had an unknown KRAS genotype (c.37_39dupGGC). Six patients with 13 primary carcinomas had distant metastases. In three of these patients, the metastasis shared the genotype only with one of the primary tumors, because the other primary tumors had another genotype. Synchronous and metachronous primary CRCs of the same patient have variable KRAS, NRAS, and BRAF genotypes. When metastases occur in these patients, the genotype has diagnostic and therapeutic implications and should be determined from the simultaneous or metachronous distant metastases.
机译：晚期大肠癌（CRC）的靶向治疗必须进行KRAS基因分型。因为我们对诊断和治疗后果感兴趣，所以我们研究了同步和异时原发性CRC中的KRAS，NRAS，PIK3CA外显子20和BRAF基因型。此外，我们研究了它们的可用转移灶。我们研究了21例大肠直肠癌（n = 20）和胃癌（n = 1）的43例同期和2例同时期腺癌。 5例有肝转移，1例有远处淋巴结转移。从显微解剖的肿瘤组织中提取基因组DNA。通过Sanger测序和焦磷酸测序分析DNA。对57个不同的肿瘤病变进行了基因分型，显示18（31.6％）KRAS，2（3.5％）NRAS和7（12.3％）BRAF突变，分布在10（47.6％），1（4.8％）和5（ 23.8％）的患者。所有同步原发性CRC的基因型只有7名（35％）。其余的具有不同组合的基因型。有趣的是，一名患者的KRAS基因型未知（c.37_39dupGGC）。 6例13例原发癌患者有远处转移。在这些患者中的三例中，转移仅与其中一种原发肿瘤共享基因型，因为其他原发肿瘤具有另一种基因型。同一患者的同步和异时原发CRC具有可变的KRAS，NRAS和BRAF基因型。当这些患者发生转移时，该基因型具有诊断和治疗意义，应从同时或异时远处转移中确定。

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