Cannataro Vincent L, Bracci Paige M, Taylor Jennie W, McCoy Lucie, Rice Terri, Hansen Helen M, Heffernan Anne E, Wiemels Joseph, Wiencke John, Wrensch Margaret, Claus Elizabeth B
Department of Biology, Emmanuel College, Boston, Massachusetts, USA.
Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California, USA.
Cancer. 2025 Mar 15;131(6):e35732. doi: 10.1002/cncr.35732.
Glioma is the most common malignant primary brain tumor and is associated with significant morbidity and mortality. Modifiable risk factors remain unidentified. New advances in exposure assessment, genomic analyses, and statistical techniques permit more accurate evaluation of glioma risk associated with exogenous occupational or environmental exposures.
By using whole-exome sequencing data from matched germline and glioma tumor samples, the authors compared tumor mutational signatures for 17 persons with glioma and a documented occupational history of firefighting with those of 18 persons with glioma without an occupational history of firefighting. All 35 individuals were participants in the University of California, San Francisco Adult Glioma Study.
There was a positive correlation among firefighters between the median number of sample variants attributable to single-base substitution signature 42, a single-base substitution mutational signature associated with haloalkane exposure (from the Catalogue of Somatic Mutational Signatures in Cancer) and firefighting years (p = .04; R = 0.29). Among nonfirefighters, the individuals with the highest number of median variants attributable to single-base substitution signature 42 also had occupations that possibly exposed them to haloalkanes, such as painting and being a mechanic.
In summary, the authors identified gliomas that had mutational signatures associated with haloalkane exposure that were enriched in firefighters and other occupations.
神经胶质瘤是最常见的原发性恶性脑肿瘤，与显著的发病率和死亡率相关。可改变的风险因素仍未明确。暴露评估、基因组分析和统计技术的新进展使得能够更准确地评估与外源性职业或环境暴露相关的神经胶质瘤风险。
通过使用来自匹配的种系和神经胶质瘤肿瘤样本的全外显子组测序数据，作者将17名有记录的消防职业史的神经胶质瘤患者的肿瘤突变特征与18名无消防职业史的神经胶质瘤患者的肿瘤突变特征进行了比较。所有35名个体均为加利福尼亚大学旧金山分校成人神经胶质瘤研究的参与者。
在消防员中，归因于单碱基替换特征42（一种与卤代烷暴露相关的单碱基替换突变特征，来自《癌症体细胞突变特征目录》）的样本变异中位数与消防年限之间存在正相关（p = 0.04；R = 0.29）。在非消防员中，归因于单碱基替换特征42的变异中位数最高的个体也从事可能使他们接触卤代烷的职业，如油漆工和机械师。
总之，作者发现与卤代烷暴露相关的突变特征在消防员和其他职业的神经胶质瘤中更为丰富。
