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病例报告:一名患有可靶向性体细胞新型KANK1-ALK、UPP2-NTRK3融合以及致病性胚系BRCA突变的胰腺导管腺癌患者。

Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation.

作者信息

Meng Fan, Lu Le, Tan Yuan, Duan Qianqian, Lu Hongwei

机构信息

Department of General Surgery, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.

The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, China.

出版信息

Front Oncol. 2021 Oct 4;11:757965. doi: 10.3389/fonc.2021.757965. eCollection 2021.

Abstract

Pancreatic ductal adenocarcinoma (PDAC) is presently one of the cancers with the worst survival rates. The current treatment options for PDAC are relatively scarce due to insufficient understanding of molecular characteristics and subtypes of PDAC. Based on next-generation sequencing (NGS), we firstly presented a case about a KRAS wild-type pancreatic ductal adenocarcinoma patient harboring a concurrent targetable rare somatic novel KANK1-ALK, UPP2-NTRK3 fusion, and pathogenetic germline BRCA mutation. These two novel fusion statuses were assayed by immunohistochemistry (IHC) and fluorescent hybridization (FISH). Our findings demonstrated that comprehensive and systematic screening of PDAC for actionable genomic alteration may substantially improve the therapeutic prospects for a sizeable fraction of patients with PDAC. To improve the management of PDAC in an era of precision medicine, it is important to identify ALK or NTRK fusion-positive and pathogenic germline mutation subsets of patients who can benefit from targeted therapies.

摘要

胰腺导管腺癌(PDAC)是目前生存率最差的癌症之一。由于对PDAC的分子特征和亚型了解不足,目前PDAC的治疗选择相对较少。基于二代测序(NGS),我们首次报道了一例KRAS野生型胰腺导管腺癌患者,该患者同时存在可靶向的罕见体细胞新型KANK1-ALK、UPP2-NTRK3融合以及致病性种系BRCA突变。通过免疫组织化学(IHC)和荧光杂交(FISH)检测了这两种新型融合状态。我们的研究结果表明,对PDAC进行全面系统的可操作基因组改变筛查可能会显著改善相当一部分PDAC患者的治疗前景。在精准医学时代,为改善PDAC的管理,识别能够从靶向治疗中获益的ALK或NTRK融合阳性以及致病性种系突变亚组患者非常重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8a/8521337/e61f53d1bafc/fonc-11-757965-g001.jpg

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