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中枢神经系统癌症中遗传性肿瘤综合征的遗传和临床特征：对临床实践的意义。

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

作者信息

Wang Chuanwei, Chen Jian, Wang Yanzhao, Luo Ningning, Han Tiantian, Yin Xiangyu, Song Yunjie, Chen Dongsheng, Gong Jie

机构信息

Department of Neurosurgery, Qilu Hospital, Cheeloo College of Medicine and Institute of Brain and Brain-Inspired Science, Shandong University, Jinan, Shandong 250012, China.

Shandong Key Laboratory of Brain Health and Function Remodeling, Jinan, Shandong 250012, China.

出版信息

iScience. 2024 Sep 30;27(11):111073. doi: 10.1016/j.isci.2024.111073. eCollection 2024 Nov 15.

DOI:10.1016/j.isci.2024.111073
PMID:39493880
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11530818/
Abstract

Recognizing individuals with Genetic tumor syndromes (GTS) in the primary central nervous system (CNS) tumors is crucial for optimizing proper genetic counseling and improving therapeutics and clinical care. We retrospectively analyzed the GTS in a Chinese CNS tumor cohort and examined the molecular characteristics and their clinical significance for diagnostic and therapeutic purposes. Our study identified 34 categories of GTS in 258 patients with CNS tumors. The gene with the highest germline pathogenic or likely pathogenic mutation frequency was , followed by , , and . The top five GTS in CNS tumors showed high genetic heterogeneity GTS analysis reclassifies CNS tumors as "NEC." 53.88% of patients diagnosed with GTS harbor potential precision oncology therapy target mutations. The results of our study deepen our understanding of CNS tumors, provide a reference direction for the future design of clinical trials, and further expect to improve disease entire process management in CNS tumors.

摘要

识别原发性中枢神经系统（CNS）肿瘤中患有遗传性肿瘤综合征（GTS）的个体对于优化适当的遗传咨询以及改善治疗和临床护理至关重要。我们回顾性分析了中国CNS肿瘤队列中的GTS，并检查了其分子特征及其对诊断和治疗目的的临床意义。我们的研究在258例CNS肿瘤患者中鉴定出34种GTS。种系致病性或可能致病性突变频率最高的基因是 ，其次是 、 和 。CNS肿瘤中排名前五的GTS显示出高度的遗传异质性。GTS分析将CNS肿瘤重新分类为“NEC”。53.88%被诊断为GTS的患者携带潜在的精准肿瘤治疗靶点突变。我们的研究结果加深了我们对CNS肿瘤的理解，为未来临床试验的设计提供了参考方向，并进一步期望改善CNS肿瘤的疾病全程管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/c889906684fc/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/079a3354e5dd/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/0fe22c946e35/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/80b6ea0c3646/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/68d154153322/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/c43f8263d5ea/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/c889906684fc/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/079a3354e5dd/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/0fe22c946e35/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/80b6ea0c3646/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/68d154153322/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/c43f8263d5ea/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/11530818/c889906684fc/gr5.jpg

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