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胰腺肿瘤中的融合基因。

Fusion genes in pancreatic tumors.

机构信息

ARC-Net Research Center, University of Verona, Verona, Italy.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

出版信息

Trends Cancer. 2024 May;10(5):430-443. doi: 10.1016/j.trecan.2024.01.009. Epub 2024 Feb 19.

Abstract

Gene fusions and rearrangements play a crucial role in tumor biology. They are rare events typically detected in KRAS wild-type (WT) pancreatic tumors. Their identification can inform clinical management by enabling precision oncology, as fusions involving BRAF, FGFR2, RET, NTRK, NRG1, and ALK represent actionable targets in KRAS-WT cancers, and serve diagnostic purposes since fusions involving PRKACA/B represent the diagnostic hallmark of intraductal oncocytic papillary neoplasms (IOPNs). Although they are rare, the therapeutic and diagnostic importance of these genomic events should not be underestimated, highlighting the need for quality-ensured molecular diagnostics in the management of cancer. Herein we review the existing literature on the role of fusion genes in pancreatic tumors and their clinical potential as effective biomarkers and therapeutic targets.

摘要

基因融合和重排在肿瘤生物学中起着至关重要的作用。它们是在 KRAS 野生型 (WT) 胰腺肿瘤中通常检测到的罕见事件。它们的鉴定可以通过实现精准肿瘤学来为临床管理提供信息,因为涉及 BRAF、FGFR2、RET、NTRK、NRG1 和 ALK 的融合在 KRAS-WT 癌症中代表可操作的靶点,并具有诊断意义,因为涉及 PRKACA/B 的融合代表了导管内嗜酸细胞性乳头状肿瘤 (IOPN) 的诊断特征。尽管它们很少见,但这些基因组事件的治疗和诊断重要性不应被低估,这凸显了在癌症管理中进行质量保证的分子诊断的必要性。本文综述了融合基因在胰腺肿瘤中的作用及其作为有效生物标志物和治疗靶点的临床潜力的现有文献。

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