基因分析的进步:兽医肿瘤学应用案例研究和新一代测序技术综述。

IF 1.2 4区 农林科学 Q3 VETERINARY SCIENCES
R Adam Harris, Jillian Nolan, Dylan Ammons, Samantha Beeson, Douglas Thamm, Anne Avery
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引用次数: 0

摘要

急性髓性白血病(AML)给兽医带来了巨大挑战,治疗方案有限,存活率低。虽然在描述人类急性髓细胞白血病的特征方面取得了重大进展,但由于对分子的了解和诊断工具有限,阻碍了将这些进展转化为兽医实践。本案例研究说明了全基因组测序在诊断犬急性髓细胞白血病中的应用,展示了其在兽医肿瘤学中的潜力。我们的方法有助于进行全面的基因组分析,确定可能与犬急性髓细胞性白血病发病机制有关的基因突变,如 KRAS、IKZF1 和 RUNX1。然而,由于缺乏临床实用性的支持性证据(如与治疗反应或预后的关系),这些信息仅限于探索。本文回顾了犬急性髓细胞性白血病与人类急性髓细胞性白血病的比较特征,并讨论了利用经济有效的下一代测序 (NGS) 技术缩小人类和兽医知识差距的策略。通过利用这些方法,可以确定犬急性髓细胞白血病与人类急性髓细胞白血病的独特和共同分子特征,从而有助于这两个物种的分子分类和治疗开发。尽管 NGS 前景广阔,但将其应用到常规兽医诊断中仍面临挑战。必须考虑成本、周转时间以及对强大的生物信息学管道和质量控制措施的需求。最重要的是,分析和临床验证流程对于确保基于 NGS 检测的可靠性和临床实用性至关重要。总之,将 NGS 技术整合到兽医肿瘤学中具有巨大的潜力,可促进我们对急性髓细胞白血病的了解并改善疾病分层,从而改善临床预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advancements in genetic analysis: Insights from a case study and review of next-generation sequencing techniques for veterinary oncology applications.

Acute myeloid leukemia (AML) poses significant challenges in veterinary medicine, with limited treatment options and poor survival rates. While substantial progress has been made in characterizing human AML, translating these advancements to veterinary practice has been hindered by limited molecular understanding and diagnostic tools. The case study presented illustrates the application of whole genome sequencing in diagnosing AML in a dog, showcasing its potential in veterinary oncology. Our approach facilitated comprehensive genomic analysis, identifying mutations in genes that may be associated with AML pathogenesis in dogs, such as KRAS, IKZF1, and RUNX1. However, without supportive evidence of its clinical utility (eg, association with response to treatment or prognosis), the information is limited to exploration. This article reviews the comparative features of canine AML with human AML and discusses strategies to shrink the knowledge gap between human and veterinary medicine with cost-effective next-generation sequencing (NGS) techniques. By utilizing these approaches, the unique and shared molecular features with human AML can be identified, aiding in molecular classification and therapeutic development for both species. Despite the promise of NGS, challenges exist in implementing it into routine veterinary diagnostics. Cost considerations, turnaround times, and the need for robust bioinformatics pipelines and quality control measures must be addressed. Most importantly, analytical and clinical validation processes are essential to ensure the reliability and clinical utility of NGS-based assays. Overall, integrating NGS technologies into veterinary oncology holds great potential for advancing our understanding of AML and improving disease stratification, in hopes of improving clinical outcomes.

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来源期刊
Veterinary clinical pathology
Veterinary clinical pathology 农林科学-兽医学
CiteScore
1.70
自引率
16.70%
发文量
133
审稿时长
18-36 weeks
期刊介绍: Veterinary Clinical Pathology is the official journal of the American Society for Veterinary Clinical Pathology (ASVCP) and the European Society of Veterinary Clinical Pathology (ESVCP). The journal''s mission is to provide an international forum for communication and discussion of scientific investigations and new developments that advance the art and science of laboratory diagnosis in animals. Veterinary Clinical Pathology welcomes original experimental research and clinical contributions involving domestic, laboratory, avian, and wildlife species in the areas of hematology, hemostasis, immunopathology, clinical chemistry, cytopathology, surgical pathology, toxicology, endocrinology, laboratory and analytical techniques, instrumentation, quality assurance, and clinical pathology education.
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