Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice
Chuanwei Wang,
Jian Chen,
Yanzhao Wang,
Ningning Luo,
Tiantian Han,
Xiangyu Yin,
Yunjie Song,
Dongsheng Chen,
Jie Gong
Affiliations
Chuanwei Wang
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
Jian Chen
Department of Oncology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China
Yanzhao Wang
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
Ningning Luo
The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, Jiangsu 210000, China
Tiantian Han
The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, Jiangsu 210000, China
Xiangyu Yin
The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, Jiangsu 210000, China
Yunjie Song
The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, Jiangsu 210000, China
Dongsheng Chen
The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, Jiangsu 210000, China; Cancer Center, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, Liaoning 121001, China; Center of Translational Medicine, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, Liaoning 121001, China
Jie Gong
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; Corresponding author
Summary: 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 TP53, followed by MSH2, NF1, and BRCA2. 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.
