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JAK2突变在肺鳞状细胞癌中的发现、意义及应用

Discovery, Significance, and Utility of JAK2 Mutation in Squamous Cell Carcinoma of the Lung.

作者信息

Hundal Jasmin, Lopetegui-Lia Nerea, Vredenburgh James

机构信息

Internal Medicine, University of Connecticut, Farmington, USA.

Hematology and Oncology, Cleveland Clinic, Cleveland, USA.

出版信息

Cureus. 2022 Jun 13;14(6):e25913. doi: 10.7759/cureus.25913. eCollection 2022 Jun.

DOI:10.7759/cureus.25913
PMID:35844327
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9279128/
Abstract

Lung cancer continues to be the leading cause of cancer-related deaths worldwide. Many studies show lung cancer is a histologically and molecularly heterogeneous group, even within the same histological subtype.  are a new tool that can identify targetable genomic mutations and impact management. JAK2 p.V617F is a mutation commonly found in myeloproliferative neoplasms but rarely identified in non-small cell lung cancer (NSCLCs). The significance of Janus Kinase (JAK2) mutation in lung cancer is not clearly understood. However, it is thought that it may have a role in treating solid tumors, such as lung cancer. We present two cases of patients diagnosed with NSCLC who were discovered to have JAK2 V617F mutation on liquid biopsy.

摘要

肺癌仍然是全球癌症相关死亡的主要原因。许多研究表明,肺癌在组织学和分子水平上是一个异质性群体,即使在同一组织学亚型内也是如此。液体活检是一种能够识别可靶向基因组突变并影响治疗管理的新工具。JAK2 p.V617F是一种常见于骨髓增殖性肿瘤但在非小细胞肺癌(NSCLC)中很少发现的突变。目前尚不清楚Janus激酶(JAK2)突变在肺癌中的意义。然而,人们认为它可能在治疗实体瘤(如肺癌)中发挥作用。我们报告了两例被诊断为NSCLC的患者,他们在液体活检中被发现存在JAK2 V617F突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/77d10d4211ff/cureus-0014-00000025913-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/bb2837a813b9/cureus-0014-00000025913-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/a71d1be39a84/cureus-0014-00000025913-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/77d10d4211ff/cureus-0014-00000025913-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/bb2837a813b9/cureus-0014-00000025913-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/a71d1be39a84/cureus-0014-00000025913-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e4/9279128/77d10d4211ff/cureus-0014-00000025913-i03.jpg

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2
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Hemasphere. 2021 Jun 1;5(6):e578. doi: 10.1097/HS9.0000000000000578. eCollection 2021 Jun.
3
A Blood-based Assay for Assessment of Tumor Mutational Burden in First-line Metastatic NSCLC Treatment: Results from the MYSTIC Study.
Aging-related biomarker discovery in the era of immune checkpoint inhibitors for cancer patients.
癌症患者免疫检查点抑制剂时代与衰老相关生物标志物的发现。
Front Immunol. 2024 Mar 15;15:1348189. doi: 10.3389/fimmu.2024.1348189. eCollection 2024.
4
Complete Metabolic Response to Combined Immune Checkpoint Inhibition after Progression of Metastatic Colorectal Cancer on Pembrolizumab: A Case Report.联合免疫检查点抑制治疗转移性结直肠癌进展后完全代谢缓解:1 例报告。
Int J Mol Sci. 2023 Jul 27;24(15):12056. doi: 10.3390/ijms241512056.
一种用于评估一线转移性非小细胞肺癌治疗中肿瘤突变负荷的血液检测方法:MYSTIC研究结果
Clin Cancer Res. 2021 Mar 15;27(6):1631-1640. doi: 10.1158/1078-0432.CCR-20-3771. Epub 2020 Dec 22.
4
Circulating tumor DNA in advanced solid tumors: Clinical relevance and future directions.循环肿瘤 DNA 在晚期实体瘤中的临床意义和未来方向。
CA Cancer J Clin. 2021 Mar;71(2):176-190. doi: 10.3322/caac.21650. Epub 2020 Nov 9.
5
Evolving use of liquid biopsy in non-small-cell-lung cancer patients.液体活检在非小细胞肺癌患者中的应用进展。
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Current and future applications of liquid biopsy in nonsmall cell lung cancer from early to advanced stages.液体活检在非小细胞肺癌从早期到晚期的当前和未来应用。
Eur Respir Rev. 2020 Feb 12;29(155). doi: 10.1183/16000617.0052-2019. Print 2020 Mar 31.
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8
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9
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Biomark Med. 2018 Nov;12(11):1197-1201. doi: 10.2217/bmm-2018-0269. Epub 2018 Oct 31.
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J Clin Oncol. 2018 Oct 19;36(35):JCO1800328. doi: 10.1200/JCO.18.00328.