30 歲前後診斷之 NF2 相關施旺氏瘤病變：疾病表現差異與基因檢測陽性率比較

// NF2-related Schwannomatosis Diagnosed Before and After 30 Years of Age: Differences in Disease Presentation and Rates of Positive Genetic Testing

本回顧性研究分析30歲前後診斷的NF2相關神經鞘瘤患者｜發現年長患者（≥30歲）較少接受基因測試，致病變異檢出率較低，但變異類型相似｜較晚診斷者腫瘤較少、病情較輕，顯示年齡影響病情嚴重度，建議結合年齡與基因資訊優化臨床判斷。

// This retrospective study analyzed patients with NF2-related schwannomatosis diagnosed before and after age 30 using next-generation sequencing. Older patients (≥30 years) were less likely to undergo genetic testing and showed lower detection rates of pathogenic variants, though variant types were similar across ages. Those diagnosed later had fewer tumors and less severe disease. The findings highlight that age at diagnosis influences disease severity independently of genetic variant type, suggesting age should inform clinical assessment alongside genetic testing.

Published 2026年6月16日