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The Pros and Cons of “Machination of Medicine” in Genitourinary Oncology Practice
Bladder Cancer ( IF 1.1 ) Pub Date : 2021-07-21 , DOI: 10.3233/blc-211514
Filippo Pederzoli 1, 2 , Marco Bandini 1, 2 , Daniele Raggi 3 , Jeffrey S. Ross 4, 5 , Philippe E. Spiess 6 , Andrea Necchi 1, 3
Affiliation  

Abstract

The increasing availability of genomic sequencing of tumor tissue in oncology provided valuable insights into tumor evolution and offered clinicians the unprecedented opportunity to tailor therapies on each individual patient, according to the treatment-impacting alterations identified in the tumor cells. In addition to the characterization of somatic alterations in tumor samples, the identification of germline (i.e., constitutional) pathogenic variants can provide additional information to guide informed and personalized therapeutic planning for patients and to enable risk-based screening protocols for at-risk relatives. In genitourinary malignancies, only a few associations between germline mutations and cancer risk and behavior have been thoroughly investigated (e.g., alterations in DNA repair genes in prostate cancer or mutations in Lynch syndrome genes in upper tract urothelial carcinoma). To achieve a wider use of both tumor genomic and germline genetic testing, an integrative approach led by scientific societies is necessary to involve physicians, patients and advocacy groups, to develop a shared strategy to advance the field and provide value-based and reproducible standards of care for patients and their families.



中文翻译:

“医学机器”在泌尿生殖肿瘤实践中的利弊

摘要

根据肿瘤细胞中确定的影响治疗的改变,肿瘤组织基因组测序在肿瘤学中的可用性不断提高,为了解肿瘤进化提供了宝贵的见解,并为临床医生提供了前所未有的机会,为每位患者量身定制治疗方案。除了对肿瘤样本中的体细胞改变进行表征外,种系(即构成性)致病变异的鉴定可以提供额外的信息,以指导患者知情和个性化的治疗计划,并为有风险的亲属启用基于风险的筛查方案。在泌尿生殖系统恶性肿瘤中,只有少数种系突变与癌症风险和行为之间的关联得到彻底研究(例如,前列腺癌中 DNA 修复基因的改变或上尿路上皮癌中 Lynch 综合征基因的突变)。为了更广泛地使用肿瘤基因组和生殖系基因检测,需要采用由科学学会主导的综合方法,让医生、患者和倡导团体参与进来,制定共同战略来推进该领域并提供基于价值和可重复的检测标准。照顾病人和他们的家人。

更新日期:2021-07-23
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