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宫颈腺癌预后异常剖析

Dissection of Aberration for Cervical Adenocarcinoma Outcomes.

作者信息

Chung Tony K H, Doran Graeme, Cheung Tak-Hong, Yim So-Fan, Yu Mei-Yung, Worley Michael J, Elias Kevin M, Thorner Aaron R, Pedamallu Chandra Sekhar, Ojesina Akinyemi I, Lau Kei-Man, Ducar Matthew D, Wong Raymond R Y, Wang Vivian W, Nag Anwesha, Wollison Bruce M, Dalgarno Audrey, Lee Jacqueline H S, Yeung Suet-Ying, Wong Lo, Horowitz Neil S, Davis Michelle R, Leung Shuk-On A, Mu Yi, Mok Samuel C, Chan Paul K S, Lawrence Michael S, Crum Christopher P, Chiu Rossa W K, Berkowitz Ross S, Wong Yick-Fu

机构信息

The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.

Firefly Bioworks, Inc., Cambridge, MA 02139, USA.

出版信息

Cancers (Basel). 2021 Jun 28;13(13):3218. doi: 10.3390/cancers13133218.

Abstract

Personalized treatment of genetically stratified subgroups has the potential to improve outcomes in many malignant tumors. This study distills clinically meaningful prognostic/predictive genomic marker for cervical adenocarcinoma using signature genomic aberrations and single-point nonsynonymous mutation-specific droplet digital PCR (ddPCR). Mutations in E542K, E545K, or H1047R were detected in 41.7% of tumors. mutation detected in the patient's circulating DNA collected before treatment or during follow-up was significantly associated with decreased progression-free survival or overall survival. mutation in the circulating DNA during follow-up after treatment predicted recurrence with 100% sensitivity and 64.29% specificity. It is the first indication of the predictive power of mutations in cervical adenocarcinoma. The work contributes to the development of liquid biopsies for follow up surveillance and a possibility of tailoring management of this particular women's cancer.

摘要

对基因分层亚组进行个性化治疗有可能改善许多恶性肿瘤的治疗结果。本研究利用特征性基因组畸变和单点非同义突变特异性液滴数字PCR(ddPCR),提炼出具有临床意义的宫颈腺癌预后/预测基因组标志物。41.7%的肿瘤检测到E542K、E545K或H1047R突变。在治疗前或随访期间收集的患者循环DNA中检测到的突变与无进展生存期或总生存期的降低显著相关。治疗后随访期间循环DNA中的突变预测复发的敏感性为100%,特异性为64.29%。这是宫颈腺癌中该突变具有预测能力的首个迹象。这项工作有助于开发用于随访监测的液体活检,并为针对这种特定女性癌症的个性化管理提供了可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f621/8269188/11c9eb4ab8bc/cancers-13-03218-g001.jpg

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