Jeon Yejoo, Choi Yun Suk, Jang Eun Sun, Kim Jin Wook, Jeong Sook-Hyang
Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
Gut Liver. 2017 Jan 15;11(1):136-141. doi: 10.5009/gnl16069.
BACKGROUND/AIMS: α-Fetoprotein (AFP) is normally <10 ng/mL in adults without malignancy or liver regeneration. However, hereditary or nonhereditary persistence of AFP in healthy adults may be encountered in clinical practice. This study describes four cases of persistent AFP elevation in healthy adults and investigates mutations in key transcription regulatory regions of the AFP gene as potential drivers of AFP overexpression.
Four healthy adults with persistently elevated AFP levels (12.1 to 186.1 ng/mL) for >1 year, and 20 controls with low AFP levels (<0.61 to 2.9 ng/mL) were included in the study. AFP levels were collected from the families of two of the patients. We sequenced five regions that are critical for AFP expression: a promoter, two enhancers, and two silencers.
One of the two cases in which family information was represented is the first case of hereditary persistence of AFP in South Korea. Mutations related to AFP overexpression were not found in the transcription regulatory regions among the four patients.
Persistent AFP elevation is a heterogeneous condition with or without a hereditary pattern and may be caused by factors outside of transcription regulatory region changes. Further research on the mechanism of AFP elevation is needed.
背景/目的：在无恶性肿瘤或肝再生的成年人中，甲胎蛋白（AFP）通常<10 ng/mL。然而，在临床实践中可能会遇到健康成年人中AFP的遗传性或非遗传性持续存在。本研究描述了4例健康成年人AFP持续升高的病例，并研究AFP基因关键转录调控区域的突变作为AFP过表达的潜在驱动因素。
本研究纳入了4名AFP水平持续升高（12.1至186.1 ng/mL）超过1年的健康成年人，以及20名AFP水平较低（<0.61至2.9 ng/mL）的对照者。从其中两名患者的家族中收集AFP水平。我们对AFP表达至关重要的五个区域进行了测序：一个启动子、两个增强子和两个沉默子。
有家族信息的两名患者中的一例是韩国首例AFP遗传性持续存在的病例。在这4名患者的转录调控区域中未发现与AFP过表达相关的突变。
AFP持续升高是一种异质性情况，有或无遗传模式，可能由转录调控区域变化之外的因素引起。需要对AFP升高的机制进行进一步研究。
