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垂体神经内分泌肿瘤多组学分析的进展与应用

The evolution and application of multi-omic analysis for pituitary neuroendocrine tumors.

作者信息

Pugazenthi Sangami, Pari Shree S, Zhang Ziyan, Silverstein Julie, Kim Albert H, Patel Bhuvic

机构信息

Taylor Family Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO, United States.

Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.

出版信息

Front Med (Lausanne). 2025 Sep 1;12:1629621. doi: 10.3389/fmed.2025.1629621. eCollection 2025.

DOI:10.3389/fmed.2025.1629621
PMID:40959438
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12434087/
Abstract

Pituitary neuroendocrine tumors (PitNETs) are a heterogeneous group of intracranial neoplasms that vary in hormonal activity, histological features, and clinical behavior. The rise of high-throughput sequencing and molecular profiling technologies has enabled multiomic approaches-including genomics, transcriptomics, epigenomics, proteomics, and metabolomics-to deepen our understanding of PitNET pathogenesis. These studies have identified key mutations, transcriptional lineages, epigenetic modifications, and proteomic features that contribute to tumor subtype classification, invasiveness, and treatment response. Integrative multi-omic analyses have further revealed distinct molecular subtypes, complex regulatory networks, and molecular profiles that can predict recurrence and therapeutic efficacy. These approaches hold strong potential for advancing personalized medicine in PitNETs, supporting patient-specific diagnosis, prognostication, and therapeutic strategies. Future directions include the application of emerging -omic technologies and the development of robust computational tools to integrate and translate multi-layered data into clinically actionable insights.

摘要

垂体神经内分泌肿瘤(PitNETs)是一组异质性颅内肿瘤,其激素活性、组织学特征和临床行为各不相同。高通量测序和分子谱分析技术的兴起,使得包括基因组学、转录组学、表观基因组学、蛋白质组学和代谢组学在内的多组学方法得以深入我们对PitNET发病机制的理解。这些研究已经确定了有助于肿瘤亚型分类、侵袭性和治疗反应的关键突变、转录谱系、表观遗传修饰和蛋白质组学特征。综合多组学分析进一步揭示了不同的分子亚型、复杂的调控网络以及能够预测复发和治疗效果的分子谱。这些方法在推进PitNET个性化医疗方面具有巨大潜力,支持针对患者的诊断、预后评估和治疗策略。未来的方向包括新兴组学技术的应用以及强大计算工具的开发,以整合多层数据并将其转化为临床可操作的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a02c/12434087/8e533a541c58/fmed-12-1629621-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a02c/12434087/791dfb76773a/fmed-12-1629621-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a02c/12434087/8e533a541c58/fmed-12-1629621-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a02c/12434087/791dfb76773a/fmed-12-1629621-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a02c/12434087/8e533a541c58/fmed-12-1629621-g002.jpg

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本文引用的文献

1
Machine Learning-Driven PCDI Classifier for Invasive PitNETs.用于侵袭性垂体神经内分泌肿瘤的机器学习驱动的PCDI分类器
Curr Gene Ther. 2025 Jul 4. doi: 10.2174/0115665232399193250529074831.
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Epigenetic implications in the pathogenesis of corticotroph tumors.表观遗传学在促肾上腺皮质激素细胞肿瘤发病机制中的意义
Pituitary. 2025 Apr 21;28(3):51. doi: 10.1007/s11102-025-01522-3.
3
Somatic GNAS mutations in acromegaly: prevalence, clinical features and gender differences.肢端肥大症中的体细胞GNAS突变:患病率、临床特征及性别差异
Endocr Connect. 2024 Dec 20;14(1). doi: 10.1530/EC-24-0266. Print 2025 Jan 1.
4
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2017-2021.美国 2017-2021 年诊断的原发性脑和其他中枢神经系统肿瘤 CBTRUS 统计报告。
Neuro Oncol. 2024 Oct 6;26(Supplement_6):vi1-vi85. doi: 10.1093/neuonc/noae145.
5
Comprehensive transcriptomic analysis identifies three distinct subtypes of pituitary adenomas: insights into tumor behavior, prognosis, and stem cell characteristics.全面转录组分析确定了三种不同类型的垂体腺瘤:对肿瘤行为、预后和干细胞特征的深入了解。
J Transl Med. 2024 Oct 3;22(1):892. doi: 10.1186/s12967-024-05702-w.
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Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.侵袭性泌乳素瘤中的体细胞激活型ESR1突变
J Clin Endocrinol Metab. 2025 Mar 17;110(4):1166-1176. doi: 10.1210/clinem/dgae615.
7
Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways.侵袭性垂体神经内分泌肿瘤的纵向多组学分析:比较同一患者的原发和复发肿瘤,揭示了基因组稳定性和代谢途径改变的异质性转录组谱。
Acta Neuropathol Commun. 2024 Aug 31;12(1):142. doi: 10.1186/s40478-024-01796-x.
8
Pituitary Neuroendocrine Tumors in Multiple Endocrine Neoplasia.多发性内分泌腺瘤病中的垂体神经内分泌肿瘤
Endocrinol Metab (Seoul). 2025 Feb;40(1):39-46. doi: 10.3803/EnM.2024.2074. Epub 2024 Aug 30.
9
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Evaluating batch correction methods for image-based cell profiling.评估基于图像的细胞分析中的批量校正方法。
Nat Commun. 2024 Aug 2;15(1):6516. doi: 10.1038/s41467-024-50613-5.