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KRAS 基因突变检测在临床实践中的应用。

KRAS mutation testing in clinical practice.

机构信息

Department of Pathology, Yale University School of Medicine, 310 Cedar Street, New Haven, CT 06520-8023, USA.

出版信息

Expert Rev Mol Diagn. 2015 Mar;15(3):375-84. doi: 10.1586/14737159.2015.986102. Epub 2014 Dec 9.

DOI:10.1586/14737159.2015.986102
PMID:25487540
Abstract

Activating mutation of KRAS plays a significant role in the pathogenesis of common human malignancies and molecular testing of KRAS mutation has emerged as an essential biomarker in the current practice of clinical oncology. The presence of KRAS mutation is generally associated with clinical aggressiveness of the cancer and reduced survival of the patient. Therapeutically, KRAS mutation testing has maximum utility in stratifying metastatic colorectal carcinoma and lung cancer patients for treatment with targeted therapy. Diagnostically, KRAS mutation testing is useful in the workup of pancreaticobiliary and thyroid cancers, particularly using cytological specimens. In the era of precision medicine, the role of KRAS mutation testing is poised to expand, likely in a setting of combinatorial therapeutic strategy and requiring additional mutation testing of its upstream and/or downstream effectors.

摘要

KRAS 激活突变在常见人类恶性肿瘤的发病机制中起着重要作用,KRAS 突变的分子检测已成为临床肿瘤学实践中的重要生物标志物。KRAS 突变的存在通常与癌症的临床侵袭性和患者的生存降低有关。在治疗方面,KRAS 突变检测在对转移性结直肠癌和肺癌患者进行靶向治疗的分层中具有最大的效用。在诊断方面,KRAS 突变检测在胰腺胆道和甲状腺癌的检查中很有用,特别是在细胞学标本中。在精准医学时代,KRAS 突变检测的作用有望扩大,可能是在联合治疗策略的背景下,并需要对其上游和/或下游效应物进行额外的突变检测。

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1
KRAS mutation testing in clinical practice.KRAS 基因突变检测在临床实践中的应用。
Expert Rev Mol Diagn. 2015 Mar;15(3):375-84. doi: 10.1586/14737159.2015.986102. Epub 2014 Dec 9.
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KRAS and BRAF: drug targets and predictive biomarkers.KRAS 和 BRAF:药物靶点和预测生物标志物。
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KRAS mutation testing in colorectal cancer.结直肠癌中的KRAS基因突变检测
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KRAS mutation testing in human cancers: The pathologist's role in the era of personalized medicine.KRAS 基因突变检测在人类癌症中的应用:个体化医学时代病理医师的角色。
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KRAS and BRAF mutation analysis can be reliably performed on aspirated cytological specimens of metastatic colorectal carcinoma.KRAS和BRAF突变分析可在转移性结直肠癌的穿刺细胞学标本上可靠地进行。
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KRAS mutant allele-specific imbalance (MASI) assessment in routine samples of patients with metastatic colorectal cancer.转移性结直肠癌患者常规样本中的KRAS突变等位基因特异性失衡(MASI)评估。
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Clinical implementation of KRAS testing in metastatic colorectal carcinoma: the pathologist's perspective.临床中结直肠癌患者 KRAS 检测的实施:病理学家的视角。
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