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

doi:10.1016/j.isci.2024.111073

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

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

Authors

Chuanwei Wang^{1

2}, Jian Chen³, Yanzhao Wang^{1

2}, Ningning Luo⁴, Tiantian Han⁴, Xiangyu Yin⁴, Yunjie Song⁴, Dongsheng Chen^{4

5

6}, Jie Gong^{1

2}

Affiliations

¹ Department of Neurosurgery, Qilu Hospital, Cheeloo College of Medicine and Institute of Brain and Brain-Inspired Science, Shandong University, Jinan, Shandong 250012, China.
² Shandong Key Laboratory of Brain Health and Function Remodeling, Jinan, Shandong 250012, China.
³ Department of Oncology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China.
⁴ 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.
⁵ Cancer Center, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, Liaoning 121001, China.
⁶ Center of Translational Medicine, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, Liaoning 121001, China.

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 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.

Keywords: Clinical genetics; Disease; Genomics.