Abstract：
Intestinal ganglioneuromatosis (GN) is an uncommon disease of the enteric nervous system (ENS) and its pathogenesis remains unclear. Here we describe a unique case of diffuse GN of the intestinal wall associated with colon adenocarcinoma occurring in a 38-year-old female. Because it is well-known that glial cell line-derived neurotrophic factor (GDNF) and its receptor components, GDNF family receptor-alpha 1 (GFR-alpha 1) and RET receptor tyrosine kinase, play a crucial role in the development of ENS, their expression was analyzed by immunohistochemistry. Interestingly, GDNF as well as a related neurotrophic factor, neurturin (NTN), were expressed at high levels in adenocarcinoma cells whereas expression of GFR alpha 1 and RET was undetectable in them. In contrast, GFR-alpha 1 showed positive staining in both proliferating ganglion cells and glial cells, and RET immunoreactivity was found mainly in ganglion cell bodies. These findings suggested that GDNF and NTN expression in adenocarcinoma cells may play an important role in the pathogenesis of GN.
摘要：
肠神经节神经瘤病（GN）是肠神经系统（ENS）的罕见疾病，其发病机制尚不清楚。在这里，我们描述了一个在38岁女性中发生的与结肠腺癌相关的肠壁弥漫性GN的独特病例。因为众所周知胶质细胞源性神经营养因子(GDNF)及其受体成分,GDNF家族受体α1（GFR-α1）和RET受体酪氨酸激酶，在ENS的发展中起着至关重要的作用，通过免疫组织化学分析其表达。有趣的是,GDNF以及相关的神经营养因子，Neurturin（NTN），在腺癌细胞中高水平表达，而GFRα1和RET的表达在其中检测不到。相比之下,GFR-α1在增殖神经节细胞和胶质细胞中均呈阳性染色,RET免疫反应性主要在神经节细胞体中发现。这些发现表明GDNF和NTN在腺癌细胞中的表达可能在GN的发病中起重要作用。
