Waeldner Kathleen, Chin Christine, Gilbo Philip
Department of Radiation Oncology, Larner College of Medicine at the University of Vermont, Burlington, USA.
Department of Radiation Oncology, Nuvance Health, Norwalk, USA.
Cureus. 2024 Nov 5;16(11):e73043. doi: 10.7759/cureus.73043. eCollection 2024 Nov.
The ataxia-telangiectasia mutated () gene is an important regulator of cell checkpoint signaling and the repair of double-stranded breaks. When the gene is mutated or damaged, cells are less capable of responding to damage induced by radiation therapy (RT). Here, we present a case of a 50-year-old woman with stage IIIA invasive ductal carcinoma of the left breast who had genetic testing revealing pathogenic mutations (c.5290del and c.4396C>G) and a mutation (c.1619dup). While guidelines suggest that adjuvant radiation therapy is safe for patients with mutations, this patient experienced severe radiation-induced toxicities, including brachial plexopathy. These mutations have not previously been described as imparting severe radiation-associated toxicities.
共济失调毛细血管扩张症突变()基因是细胞检查点信号传导和双链断裂修复的重要调节因子。当该基因发生突变或受损时,细胞对放射治疗(RT)诱导的损伤的反应能力会降低。在此,我们报告一例50岁女性,患有左乳IIIA期浸润性导管癌,其基因检测显示存在致病性突变(c.5290del和c.4396C>G)以及突变(c.1619dup)。虽然指南表明辅助放射治疗对有突变的患者是安全的,但该患者经历了严重的放射诱导毒性,包括臂丛神经病变。这些突变以前尚未被描述为会导致严重的放射相关毒性。