胰腺神经内分泌肿瘤的基因组图谱及其对临床实践的影响

IF 5.3 2区 医学 Q1 ONCOLOGY JCO precision oncology Pub Date : 2024-09-01 DOI:10.1200/PO.24.00221
Ana De Jesus-Acosta, Chirayu Mohindroo
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引用次数: 0

摘要

胰腺神经内分泌肿瘤(pNETs)是胰腺中发病率第二高的肿瘤,其预后和临床过程各不相同。在过去十年中,随着全基因组测序和种系检测技术的普及,我们对 pNET 患者基因改变的了解不断加深。本综述将重点讨论基因检测在 pNET 患者中的潜在临床应用。在体细胞检测方面,我们将讨论常见的体细胞突变及其对 pNET 患者预后和治疗的影响。我们还强调了可预测对特定治疗反应的相关基因组生物标志物。以前,种系检测仅被推荐用于具有综合征特征(MEN1、VHL、TSC 和 NF1)的高风险患者,最近的研究表明,散发性出现的 pNET 也可能携带种系变异,因此我们回顾了 pNET 种系检测范式的演变。
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Genomic Landscape of Pancreatic Neuroendocrine Tumors and Implications for Clinical Practice.

Pancreatic neuroendocrine tumors (pNETs) are the second most prevalent neoplasms of the pancreas with variable prognosis and clinical course. Our knowledge of the genetic alterations in patients with pNETs has expanded in the past decade with the availability of whole-genome sequencing and germline testing. This review will focus on potential clinical applications of the genetic testing in patients with pNETs. For somatic testing, we discuss the commonly prevalent somatic mutations and their impact on prognosis and treatment of patients with pNET. We also highlight the relevant genomic biomarkers that predict response to specific treatments. Previously, germline testing was only recommended for high-risk patients with syndromic features (MEN1, VHL, TSC, and NF1), we review the evolving paradigm of germline testing in pNETs as recent studies have now shown that sporadic-appearing pNETs can also harbor germline variants.

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CiteScore
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自引率
4.30%
发文量
363
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