散发性肢端肥大症的分子生物学研究

IF 6.1 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-05-01 DOI:10.1016/j.beem.2024.101895
Daniel Marrero-Rodríguez (Associate Researcher), Alberto Moscona-Nissan, Jessica Sidauy-Adissi, Fabian Haidenberg-David, Esbeydi Jonguitud-Zumaya, Leonel de Jesus Chávez-Vera, Florencia Martinez-Mendoza, Keiko Taniguchi-Ponciano (Associate Researcher), Moises Mercado (Endocrinologist, Full Professor)
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引用次数: 0

摘要

分泌 GH 的肿瘤占所有垂体神经内分泌肿瘤(pitNETs)的 15% 至 20%,其中 95% 为散发性,无可辨认的遗传原因。最近的多组学方法描述了垂体瘤的表观基因组、基因组、转录组、蛋白质组和基因组特征。转录组分析使我们能够发现驱动垂体瘤分化的特定转录因子和基因表达模式。分泌 GH、PRL 和 TSH 的垂体瘤由 POU1F1 驱动;分泌 ACTH 的肿瘤由 TBX19 决定;而主要由促性腺激素分化的无功能肿瘤则由 NR5A1 决定。某些 miRNA(如 miR-107)的上调与肿瘤进展有关,而其他 miRNA(如 miR-15a 和 miR-16-1)的下调则与肿瘤缩小有关。此外,miRNA 的表达谱与治疗耐药性和临床结果有关,为潜在的治疗靶点提供了洞察力。、、、和与 cAMP、钙信号转导和 ATP 通路相关的体细胞突变也与肢端肥大症的发生有关。本综述重点探讨散发性肢端肥大症的致癌机制,包括一系列复杂的分子改变,这些改变最终改变了增殖和凋亡之间的平衡,以及激素分泌失调。
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The molecular biology of sporadic acromegaly

GH-secreting tumors represent 15 % to 20 % of all pituitary neuroendocrine tumors (pitNETs), of which 95 % occur in a sporadic context, without an identifiable inherited cause. Recent multi-omic approaches have characterized the epigenomic, genomic, transcriptomic, proteomic and kynomic landscape of pituitary tumors. Transcriptomic analysis has allowed us to discover specific transcription factors driving the differentiation of pituitary tumors and gene expression patterns. GH-secreting, along with PRL- and TSH-secreting pitNETs are driven by POU1F1; ACTH-secreting tumors are determined by TBX19; and non-functioning tumors, which are predominantly of gonadotrope differentiation are conditioned by NR5A1. Upregulation of certain miRNAs, such as miR-107, is associated with tumor progression, while downregulation of others, like miR-15a and miR-16–1, correlates with tumor size reduction. Additionally, miRNA expression profiles are linked to treatment resistance and clinical outcomes, providing insights into potential therapeutic targets. Specific somatic mutations in GNAS, PTTG1, GIPR, HGMA2, MAST and somatic variants associated with cAMP, calcium signaling, and ATP pathways have also been associated with the development of acromegaly. This review focuses on the oncogenic mechanisms by which sporadic acromegaly can develop, covering a complex series of molecular alterations that ultimately alter the balance between proliferation and apoptosis, and dysregulated hormonal secretion.

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来源期刊
CiteScore
11.90
自引率
0.00%
发文量
77
审稿时长
6-12 weeks
期刊介绍: Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.
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