Esophageal cancer shares strong associations with oropharyngeal and hypopharyngeal cancers, primarily due to shared risk factors like excessive tobacco and alcohol use. This retrospective study at Taichung Veterans General Hospital involved 54,692 participants, including 385 with squamous cell carcinoma (SCC) of the esophagus, oropharynx, or hypopharynx. Using a polygenic risk score (PRS) derived from 8353 single-nucleotide polymorphisms, researchers aimed to assess its correlation with cancer incidence and prognosis. The study found a 1.83-fold higher risk of esophageal, oropharyngeal, and hypopharyngeal SCCs in participants with a high PRS (Q4) compared to the low-PRS group (Q1). Esophageal cancer risk demonstrated a significant positive association with the PRS, as did hypopharyngeal cancer. Clinical parameters and staging showed limited associations with PRS quartiles, and the PRS did not significantly impact recurrence or mortality rates. The research highlighted that a higher PRS is linked to increased susceptibility to esophageal and hypopharyngeal cancer. Notably, a specific polygenic risk score, PGS001087, exhibited a discernible association with SCC risk, particularly in specific subtypes and advanced disease stages. However, it was not significantly linked to clinical cancer staging, emphasizing the multifactorial nature of cancer development. This hospital study reveals that a higher PRS correlates with increased susceptibility to esophageal and hypopharyngeal cancers. Notably, PGS001087 shows a discernible association with SCC risk in specific subtypes and advanced stages, although not significantly linked to clinical cancer staging. These findings enhance our understanding of genetic factors in upper aerodigestive tract cancers, particularly esophageal SCC, guiding future research and risk assessment strategies.
食管癌与口咽癌及下咽癌具有显著关联，主要归因于共同的危险因素，如过度吸烟和饮酒。这项在台中荣民总医院进行的回顾性研究纳入了54,692名参与者，其中包括385名患有食管、口咽或下咽鳞状细胞癌（SCC）的患者。研究人员利用基于8353个单核苷酸多态性构建的多基因风险评分（PRS），旨在评估其与癌症发病率和预后的相关性。研究发现，与低PRS组（Q1）相比，高PRS组（Q4）参与者患食管、口咽及下咽鳞状细胞癌的风险高出1.83倍。食管癌风险与PRS呈显著正相关，下咽癌亦如此。临床参数和分期与PRS四分位数的关联有限，且PRS对复发率或死亡率无显著影响。研究强调，较高的PRS与食管癌和下咽癌的易感性增加相关。值得注意的是，特定的多基因风险评分PGS001087与鳞状细胞癌风险存在可辨别的关联，尤其在特定亚型和晚期疾病阶段。然而，其与临床癌症分期无显著关联，这突显了癌症发展的多因素性质。这项医院研究表明，较高的PRS与食管癌和下咽癌的易感性增加相关。值得注意的是，PGS001087在特定亚型和晚期阶段与鳞状细胞癌风险存在可辨别的关联，尽管其与临床癌症分期无显著关联。这些发现增进了我们对上消化道癌症（尤其是食管鳞状细胞癌）遗传因素的理解，为未来研究和风险评估策略提供了指导。
肿瘤(癌症)患者之家