液体活检在胃肠胰神经内分泌肿瘤中的应用现状

胃肠胰神经内分泌肿瘤(gastroenteropancreatic neuroendocrine neoplasms,GEP-NENs)是一类起源于神经内分泌细胞且具有神经内分泌功能的肿瘤。由于GEP-NENs的临床症状和生物学行为缺乏特异性,因此早期误诊率和漏诊率极高。同时,原发部位和分级不同的GEP-NENs分子生物学特性差异较大,因此该类肿瘤具有高度的异质性。目前对于该类疾病的诊断主要依靠于影像学和组织活检等传统方法。这导致只能获得取样位置的基因信息,而不能反映肿瘤的整体情况。近年来,随着基因组测序技术的高度发展,循环生物标志物和液体活检技术弥补了组织活检所带来的局限性,为提高GEP-NENs的诊断率和实现精准治疗带来了新机遇。本文将总结并比较液体活检在GEP-NENs中的应用现状。

Status of liquid biopsy application in gastroenteropancreatic neuroendocrine neoplasms

Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are neoplasms that develop from neuroendocrine cells and exhibit neuroendocrine functions. The lack of specific clinical symptoms and biological behaviors for NENs cause early misdiagnosis and missed diagnosis in a majority of cases. However, the molecular biology of GEP-NENs vary greatly in different primary sites and grades, contributing to the high heterogeneity in such type of tumors. Currently, the diagnosis of GEP-NENs mainly depends on traditional methods such as imaging and tissue biopsy, leading to imperfect diagnostics by only reflecting genetic information about the location of the biopsy sample in the overall neoplasm. With the rapid development of genome sequencing technology in recent years, the exploration of circulating biomarkers and liquid biopsy technology have compensated for the limitations of tissue biopsy, thereby creating new opportunities to improve the diagnostic rate of GEP-NENs and the realization of precise treatment. This review summarizes and compares the status of liquid biopsy applications in investigating GEP-NENs.