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- 肠道肿瘤的重排:临床病理及分子遗传学特征的最新进展

-Rearranged Enteric Tumors: Updates on Clinicopathologic and Molecular Genetics Features.

作者信息

Younes Ahmed I, Mejbel Haider A

机构信息

Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.

出版信息

Cells. 2025 Jan 14;14(2):118. doi: 10.3390/cells14020118.

Abstract

Recent advances in molecular genetics, particularly in identifying and characterizing genetic abnormalities within mesenchymal neoplasms, have led to a more comprehensive and evolving classification system. Modern technological developments in cytogenetics and next-generation sequencing have enabled the analysis of small clinical samples, expanded our understanding of tumor biology, and improved the diagnostic, prognostic, and predictive precision by identifying targeted genetic alterations, confirming the presence of fusion transcripts, and/or revealing the overexpression of specific genes and their targets. In this review, we focus specifically on the -rearranged enteric tumor, a recent clinicopathological entity that has emerged within the expanding classification of mesenchymal tumors. Herein, we aim to explore the histopathological features, molecular genetic characteristics, and clinical outcomes in these tumors. Due to their rarity and the extensive overlapping in their histopathological and molecular features with other neoplasms, continued research and systematic documentation of -rearranged enteric tumors is necessary to better understand their biological behavior, develop more accurate prognostic indicators, and establish optimal treatment strategies.

摘要

分子遗传学的最新进展,尤其是在鉴定和表征间叶性肿瘤中的基因异常方面,已促成了一个更全面且不断发展的分类系统。细胞遗传学和新一代测序技术的现代发展使得对小临床样本的分析成为可能,扩展了我们对肿瘤生物学的理解,并通过识别靶向基因改变、确认融合转录本的存在和/或揭示特定基因及其靶点的过表达,提高了诊断、预后和预测的准确性。在本综述中,我们特别关注重排性肠道肿瘤,这是一种在不断扩展的间叶性肿瘤分类中出现的最新临床病理实体。在此,我们旨在探讨这些肿瘤的组织病理学特征、分子遗传学特征和临床结局。由于它们罕见,且其组织病理学和分子特征与其他肿瘤广泛重叠,因此持续研究和系统记录重排性肠道肿瘤对于更好地理解其生物学行为、制定更准确的预后指标以及确立最佳治疗策略是必要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a1e/11763425/ac05f2708020/cells-14-00118-g001.jpg

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