Suresh Padmanaban S, Venkatesh Thejaswini, Tsutsumi Rie, Shetty Abhishek
1 Department of Biosciences, Mangalore University, Mangalore, India.
2 Department of Biochemistry and Molecular Biology, Central University of Kerala, Kasargod, India.
Tumour Biol. 2017 May;39(5):1010428317698376. doi: 10.1177/1010428317698376.
Contemporary molecular biology research tools have enriched numerous areas of biomedical research that address challenging diseases, including endocrine cancers (pituitary, thyroid, parathyroid, adrenal, testicular, ovarian, and neuroendocrine cancers). These tools have placed several intriguing clues before the scientific community. Endocrine cancers pose a major challenge in health care and research despite considerable attempts by researchers to understand their etiology. Microarray analyses have provided gene signatures from many cells, tissues, and organs that can differentiate healthy states from diseased ones, and even show patterns that correlate with stages of a disease. Microarray data can also elucidate the responses of endocrine tumors to therapeutic treatments. The rapid progress in next-generation sequencing methods has overcome many of the initial challenges of these technologies, and their advantages over microarray techniques have enabled them to emerge as valuable aids for clinical research applications (prognosis, identification of drug targets, etc.). A comprehensive review describing the recent advances in next-generation sequencing methods and their application in the evaluation of endocrine and endocrine-related cancers is lacking. The main purpose of this review is to illustrate the concepts that collectively constitute our current view of the possibilities offered by next-generation sequencing technological platforms, challenges to relevant applications, and perspectives on the future of clinical genetic testing of patients with endocrine tumors. We focus on recent discoveries in the use of next-generation sequencing methods for clinical diagnosis of endocrine tumors in patients and conclude with a discussion on persisting challenges and future objectives.
当代分子生物学研究工具丰富了生物医学研究的众多领域,这些领域致力于攻克包括内分泌癌(垂体癌、甲状腺癌、甲状旁腺癌、肾上腺癌、睾丸癌、卵巢癌和神经内分泌癌)在内的疑难疾病。这些工具为科学界提供了若干耐人寻味的线索。尽管研究人员为了解内分泌癌的病因付出了巨大努力,但内分泌癌在医疗保健和研究方面仍然构成重大挑战。微阵列分析提供了来自许多细胞、组织和器官的基因特征,这些特征能够区分健康状态和患病状态,甚至能显示出与疾病阶段相关的模式。微阵列数据还能阐明内分泌肿瘤对治疗的反应。新一代测序方法的迅速发展克服了这些技术最初面临的许多挑战,并且相对于微阵列技术的优势使其成为临床研究应用(预后、药物靶点鉴定等)的宝贵辅助手段。目前缺乏一篇全面综述来描述新一代测序方法的最新进展及其在评估内分泌癌和内分泌相关癌症中的应用。本综述的主要目的是阐述一些概念,这些概念共同构成了我们目前对新一代测序技术平台所提供可能性的看法、相关应用面临的挑战以及对内分泌肿瘤患者临床基因检测未来发展的展望。我们重点关注新一代测序方法在患者内分泌肿瘤临床诊断中的最新发现,并最后讨论持续存在的挑战和未来目标。