头颈癌基因组检测:有好处吗?

V. Rao, R. Nayar, Richitha V. Pandit, Mithua Ghosh, Sataksi Chatterjee
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摘要

前言:阐明头颈癌(HNCs)的基因组基础可能有助于降低癌症相关的死亡率和发病率。这是因为通过预测病程和治疗反应的预后将有助于个性化治疗方案。材料和方法:本前瞻性先导研究对18例HNCs患者的肿瘤组织样本进行了48个基因突变检测。从治疗耐药、远处转移、家族史和疾病复发等方面分析这些突变的临床意义。结果:2例患者携带生殖系突变,9例携带体细胞突变,7例样本在48个基因面板上未检测到突变。基因组研究检测到BRCA和AIP的种系突变,以及TP53、磷酸酶和紧张素同源物(PTEN)、RB1、STK11、GNA11和HRAS的体细胞突变。结论:该研究似乎验证了HNC病例的早期基因组检测,以修改治疗方案,并为患者提供更具体和个性化的治疗选择。临床意义:该研究证明了将基因组数据与临床细节相结合的潜在益处,从而制定出适合个体患者的治疗计划。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomics Testing in Head and Neck Cancers: Is there a Benefit?
Ab s t r Ac t Introduction: Elucidation of the genomic basis of head and neck cancers (HNCs) may help in reducing cancer-related mortality and morbidity. This is because prognostication by predicting disease course and treatment response will help to individualize treatment protocols. Materials and methods: This prospective pilot study used a 48-gene mutation panel on tumor tissue samples obtained from 18 patients suffering from HNCs. The clinical significance of these mutations was analyzed in terms of treatment resistance, presence of distant metastasis, family history, and disease recurrence. Results: Two patients carried germline mutations, nine carried somatic mutations and seven samples had no mutation detected on the 48-gene panel. The genomic studies detected germline mutations in BRCA and AIP, and somatic mutations in TP53, phosphatase and tensin homolog (PTEN), RB1, STK11, GNA11, and HRAS. Conclusion: The study appears to validate early genomic testing of HNC cases to modify treatment protocols and offers more specific and personalized treatment options to patients. Clinical significance: The study demonstrates the potential benefit of integrating genomic data with clinical details to map out a tailored treatment plan to benefit individual patients.
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