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神经内分泌肿瘤:基因组学与分子生物标志物,重点关注转移性疾病

Neuroendocrine Tumors: Genomics and Molecular Biomarkers with a Focus on Metastatic Disease.

作者信息

Alexander Erica S, Ziv Etay

机构信息

Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

出版信息

Cancers (Basel). 2023 Apr 12;15(8):2249. doi: 10.3390/cancers15082249.

DOI:10.3390/cancers15082249
PMID:37190177
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10137277/
Abstract

Neuroendocrine tumors (NETs) are considered rare tumors that originate from specialized endocrine cells. Patients often present with metastatic disease at the time of diagnosis, which negatively impacts their quality of life and overall survival. An understanding of the genetic mutations that drive these tumors and the biomarkers used to detect new NET cases is important to identify patients at an earlier disease stage. Elevations in CgA, synaptophysin, and 5-HIAA are most commonly used to identify NETs and assess prognosis; however, new advances in whole genome sequencing and multigenomic blood assays have allowed for a greater understanding of the drivers of NETs and more sensitive and specific tests to diagnose tumors and assess disease response. Treating NET liver metastases is important in managing hormonal or carcinoid symptoms and is imperative to improve patient survival. Treatment for liver-dominant disease is varied; delineating biomarkers that may predict response will allow for better patient stratification.

摘要

神经内分泌肿瘤(NETs)被认为是起源于特殊内分泌细胞的罕见肿瘤。患者在诊断时常常已出现转移性疾病,这对他们的生活质量和总生存期产生负面影响。了解驱动这些肿瘤的基因突变以及用于检测新的NET病例的生物标志物,对于在疾病早期阶段识别患者很重要。嗜铬粒蛋白A(CgA)、突触素和5-羟吲哚乙酸(5-HIAA)水平升高最常用于识别NETs并评估预后;然而,全基因组测序和多基因组血液检测的新进展使得人们对NETs的驱动因素有了更深入的了解,以及用于诊断肿瘤和评估疾病反应的更敏感、更特异的检测方法。治疗NET肝转移对于控制激素或类癌症状很重要,并且对于提高患者生存率至关重要。针对以肝脏为主的疾病的治疗方法多种多样;确定可能预测反应的生物标志物将有助于更好地对患者进行分层。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6866/10137277/e6bd29b6e8d1/cancers-15-02249-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6866/10137277/e6bd29b6e8d1/cancers-15-02249-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6866/10137277/e6bd29b6e8d1/cancers-15-02249-g001.jpg

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