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2021年分子遗传病理学新进展:实体瘤与NGS检测板选择

What's new in molecular genetic pathology 2021: solid tumors and NGS panel selection.

作者信息

Chen Guoli, Tsang Patricia C

机构信息

Geisinger Medical Laboratories, Geisinger Health, Danville and Wilkes-Barre, PA, USA.

出版信息

J Pathol Transl Med. 2021 Nov;55(6):421-422. doi: 10.4132/jptm.2021.09.01. Epub 2021 Nov 12.

DOI:10.4132/jptm.2021.09.01
PMID:34788978
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8601954/
Abstract

The linchpin of precision medicine is molecular genetic and genomic testing. Molecular biomarkers are important for establishing precise diagnoses and for predicting therapeutic responses that enable cancer patients to receive personalized and targeted treatment. Below are highlights of the current considerations in next generation sequencing (NGS) panel selection, and in molecular testing of solid tumors of the lung, digestive system, thyroid and soft tissue.

摘要

精准医学的关键在于分子遗传学和基因组检测。分子生物标志物对于精准诊断以及预测治疗反应至关重要,这能使癌症患者接受个性化和靶向治疗。以下是下一代测序(NGS) panel 选择以及肺、消化系统、甲状腺和软组织实体瘤分子检测当前考量因素的要点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc18/8601954/79783a5922af/jptm-2021-09-01f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc18/8601954/79783a5922af/jptm-2021-09-01f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc18/8601954/79783a5922af/jptm-2021-09-01f1.jpg

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本文引用的文献

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Rhabdomyosarcoma: How Advanced Molecular Methods Are Shaping the Diagnostic and Therapeutic Paradigm.横纹肌肉瘤:先进分子方法如何塑造诊断和治疗模式
Pediatr Dev Pathol. 2021 Sep-Oct;24(5):395-404. doi: 10.1177/10935266211013621. Epub 2021 Jun 9.
2
Trastuzumab deruxtecan (DS-8201) in patients with HER2-expressing metastatic colorectal cancer (DESTINY-CRC01): a multicentre, open-label, phase 2 trial.曲妥珠单抗-德鲁替康(DS-8201)治疗人表皮生长因子受体 2(HER2)表达的转移性结直肠癌(DESTINY-CRC01)患者:一项多中心、开放标签、Ⅱ期临床试验。
Lancet Oncol. 2021 Jun;22(6):779-789. doi: 10.1016/S1470-2045(21)00086-3. Epub 2021 May 4.
3
Liquid biopsy enters the clinic - implementation issues and future challenges.
液体活检进入临床——实施问题与未来挑战。
Nat Rev Clin Oncol. 2021 May;18(5):297-312. doi: 10.1038/s41571-020-00457-x. Epub 2021 Jan 20.
4
Molecular testing and targeted therapy for non-small cell lung cancer: Current status and perspectives.非小细胞肺癌的分子检测与靶向治疗:现状与展望
Crit Rev Oncol Hematol. 2021 Jan;157:103194. doi: 10.1016/j.critrevonc.2020.103194. Epub 2020 Dec 11.