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精准诊断:癌症中组织病理学与基因组学的整合。

Precision diagnostics: integration of tissue pathology and genomics in cancer.

机构信息

Medlab Pathology, Auburn, NSW, Australia; QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, Qld, Australia; Faculty of Medicine, University of Queensland, Brisbane, Qld, Australia.

Medlab Pathology, Auburn, NSW, Australia; genomiQa, Brisbane, Qld, Australia.

出版信息

Pathology. 2021 Dec;53(7):809-817. doi: 10.1016/j.pathol.2021.08.003. Epub 2021 Oct 8.

DOI:10.1016/j.pathol.2021.08.003
PMID:34635323
Abstract

Traditionally, cancer diagnosis and management has been reactionary in that symptoms lead to investigations, then a diagnosis is followed by clinical management. This process is heavily dependent on tissue diagnosis mainly by histopathology and to a lesser extent, cytopathology. However, in recent times there has been a shift towards precision medicine to enable prevention, prediction and personalisation in healthcare. The core of precision medicine is optimising therapeutic benefit for patients, by using genomic and molecular profiling, analogously termed precision pathology. This review explores (1) the evolution of pathology from a para-clinical discipline to a mainstream medical field integral to oncology tumour boards; (2) its critical role in preventative, diagnostic, therapeutic and follow-up cancer care; (3) the future of tissue pathology in the era of precision oncology; and (4) how pathologists may evolve to future-proof their profession.

摘要

传统上,癌症的诊断和治疗是被动的,即症状导致检查,然后是诊断,接着是临床管理。这个过程严重依赖于组织诊断,主要是通过组织病理学,在较小程度上依赖于细胞病理学。然而,最近已经转向精准医学,以实现医疗保健的预防、预测和个性化。精准医学的核心是通过基因组和分子分析来优化患者的治疗效果,这也被称为精准病理学。这篇综述探讨了:(1)病理学从辅助临床学科演变为肿瘤委员会中不可或缺的主流医学领域的过程;(2)它在预防、诊断、治疗和随访癌症护理方面的关键作用;(3)精准肿瘤学时代组织病理学的未来;(4)病理学家如何发展以应对未来的挑战。

相似文献

1
Precision diagnostics: integration of tissue pathology and genomics in cancer.精准诊断:癌症中组织病理学与基因组学的整合。
Pathology. 2021 Dec;53(7):809-817. doi: 10.1016/j.pathol.2021.08.003. Epub 2021 Oct 8.
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The Role of Pathology in the Era of Personalized (Precision) Medicine: A Brief Review.病理学在个性化(精准)医学时代的作用:简要综述。
Acta Med Acad. 2021 Apr;50(1):47-57. doi: 10.5644/ama2006-124.325.
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Precision cytopathology: expanding opportunities for biomarker testing in cytopathology.精准细胞病理学:拓展细胞病理学中生物标志物检测的机会
J Am Soc Cytopathol. 2019 Mar-Apr;8(2):95-115. doi: 10.1016/j.jasc.2018.12.003. Epub 2018 Dec 24.
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Enabling Precision Oncology Through Precision Diagnostics.通过精准诊断实现精准肿瘤学。
Annu Rev Pathol. 2020 Jan 24;15:97-121. doi: 10.1146/annurev-pathmechdis-012418-012735.
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Personalized cancer medicine and the future of pathology.个性化癌症医学与病理学的未来。
Virchows Arch. 2012 Jan;460(1):3-8. doi: 10.1007/s00428-011-1179-6. Epub 2011 Dec 6.
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[Molecular-Genetic Diagnosis and Molecular-Targeted Therapy in Cancer: Challenges in the Era of Precision Medicine].[癌症的分子遗传学诊断与分子靶向治疗:精准医学时代的挑战]
Rinsho Byori. 2015 Oct;63(10):1188-93.
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Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.临床精准肿瘤学的研究结果:罕见的新型变异体是分子诊断扩展的重要贡献因素。
BMC Med Genomics. 2022 Mar 26;15(1):70. doi: 10.1186/s12920-022-01214-y.
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The importance of precision medicine in modern molecular oncology.精准医学在现代分子肿瘤学中的重要性。
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Challenging Standard-of-Care Paradigms in the Precision Oncology Era.精准肿瘤学时代对护理标准范式的挑战
Trends Cancer. 2018 Feb;4(2):101-109. doi: 10.1016/j.trecan.2017.12.004. Epub 2018 Jan 12.
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Precision Oncology: Who, How, What, When, and When Not?精准肿瘤学:何人、如何、何事、何时以及何时不宜?
Am Soc Clin Oncol Educ Book. 2017;37:160-169. doi: 10.1200/EDBK_174176.

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