Li Yifan, Zhang Xiaojuan
Hepatobiliary, Pancreatic and Gastrointestinal Surgery, Shanxi Province Carcinoma Hospital, Shanxi Hospital Affiliated to Carcinoma Hospital, Chinese Academy of Medical Sciences, Carcinoma Hospital Affiliated to Shanxi Medical University Taiyuan 030013, Shanxi, PR China.
Radiology Department, Shanxi Province Cancer Hospital, Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences, Cancer Hospital Affiliated to Shanxi Medical University Taiyuan 030013, Shanxi, PR China.
Am J Cancer Res. 2023 Jul 15;13(7):2763-2772. eCollection 2023.
The incidence of early-onset pancreatic cancer (EOPC) among young population (<50 years) is rising in the last decade, with gender, medical overtreatment, and genetic factors as the risk factors in EOPC. Nevertheless, the role of genetic factors in the development of EOPC needs further exploration since the studies were carried out with small sample size and ambiguous evidence. Notable, the high incidence of pathogenic germline variant (PGV) appears to be involved in EOPC. Compared with average-age-onset pancreatic cancer (AOPC), EOPC patients display a distinctive genomic feature on several well-known tumor suppressor and oncogenic genes including, including SMAD4, RAS wild wild-type, CDKN2A BRCA1, BRCA2 and FOXC2, which is different from the findings of studies with AOPC and LOPC, suggesting the dynamic evolving entity of EOPC. In addition, the potential gender-related incidence found in several countries also suggests the involvement of genetic or socioenvironmental factors in the development of AOPC. Therefore, further prospective epidemiological and molecular studies are warranted to elucidate the shifting epidemiology of this disease and, most importantly, to better exploit the opportunities for the early diagnosis of the disease.
在过去十年中,年轻人群(<50岁)中早发性胰腺癌(EOPC)的发病率呈上升趋势,性别、医疗过度治疗和遗传因素是EOPC的危险因素。然而,由于相关研究样本量小且证据不明确,遗传因素在EOPC发生发展中的作用仍需进一步探索。值得注意的是,致病性种系变异(PGV)的高发生率似乎与EOPC有关。与平均年龄发病的胰腺癌(AOPC)相比,EOPC患者在几个著名的肿瘤抑制基因和致癌基因上表现出独特的基因组特征,包括SMAD4、RAS野生型、CDKN2A、BRCA1、BRCA2和FOXC2,这与AOPC和晚发性胰腺癌(LOPC)的研究结果不同,提示EOPC是一个动态演变的实体。此外,在几个国家发现的潜在性别相关发病率也表明遗传或社会环境因素参与了AOPC的发生发展。因此,有必要进一步开展前瞻性流行病学和分子研究,以阐明这种疾病不断变化的流行病学特征,最重要的是,更好地利用机会实现疾病的早期诊断。