Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
Dongxiao Zhuang , Tiantian Han , Didi Guo , Rongrong Kong , Siqi Chen , Yuwei Dong , Mengjuan Wang , Ran Ding , Wanglong Deng , Fanfeng Bu
Background: Glioma is the most common type of brain malignancy in adults. The 5th edition of the World Health Organization (WHO) highlighted the homozygous deletion of the CDKN2A/2B as a clinically important molecular alteration in IDH-mutant glioma. In the study, we reported the prevalence and characteristics analysis of CDKN2A/B deletion in glioma. Methods: This study retrospectively analyzed the genomic alteration of 2390 Chinese glioma patients during 2019-2022. Next-generation sequencing (NGS) of 131-gene profiling was performed to detect gene mutations in tumors of the patients. Patients were divided into two groups for copy number (CN) variation set, as heterozygous deletion (CN> 0.5, HET-del) or homozygous deletion (CN≤ 0.5, HOM-del) group. Results: A total of 743 (31%) cases were detected with CDKN2A/B deletion, 21 cases were children (< 18 years old), and 722 cases were adults, with a mean age of 53 years (0-85 years). CDKN2A/B deletion showed a higher frequency in the subgroup of IDH-wildtype glioma compared with IDH-mutant glioma in adults (39% vs. 15%, p<0.005). The age showed no significant difference between CDKN2A/B HET-del (n=420) and HOM-del (n=323) patients (average age: 53, p = 0.74). In both of the two groups, the most frequently somatic mutated genes were TERT, EGFR, PTEN. However, NF1 mutations were significantly enriched in the HET-del group (21% vs. 12%,p<0.005). Conclusions: Taken together, CDKN2A/B deletion were found in 31% glioma patients and showed higher frequency in IDH-wildtype glioma. NF1 mutations were significantly enriched in the HET-del group, which may reveal distinct prognosis and pathogenic mechanisms in glioma.
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Abstract Disclosures
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