Nishida T, Hirota S
Department of Surgery, E1, Osaka University Graduate School of Medicine, Suita, Japan.
Histol Histopathol. 2000 Oct;15(4):1293-301. doi: 10.14670/HH-15.1293.
Submucosal tumors of the gastrointestinal tract (GI tract) mainly consist of gastrointestinal mesenchymal tumors (GIMTs) that are distributed in the GI tract from the esophagus through the rectum. GIMTs include myogenic tumors, neurogenic tumors and gastrointestinal stromal tumors (GISTs). The term "GIST" is now preferentially used for the tumors that express CD34 and KIT. GIMTs are composed of spindle or epithelioid cells, and 20% to 30% show malignant behavior, including peritoneal dissemination and hematogenous metastasis. KIT expression and mutations in the c-kit gene are found only in GISTs, but not in myogenic or neurogenic tumors. Mutation in the c-kit gene is associated with aggressive features and poor prognosis, and malignant GISTs frequently have mutations in the c-kit gene. The clinicopathological features of GISTs with or without c-kit mutations are markedly different. Therefore, GIMTs may be divided into four major categories based on histochemical and genetic data: myogenic tumors; neurogenic tumors; GISTs with c-kit mutation; and GISTs without c-kit mutation. The origin of GISTs is not fully understood. However, phenotypical resemblance to the interstitial cells of Cajal (ICCs) and gain-of-function mutations in the c-kit gene may suggest origin from ICCs and/or multipotential mesenchymal cells that differentiate into ICCs.
胃肠道黏膜下肿瘤主要由胃肠道间质瘤（GIMTs）组成，这些肿瘤分布于从食管至直肠的胃肠道。GIMTs包括肌源性肿瘤、神经源性肿瘤和胃肠道间质瘤（GISTs）。现在，术语“GIST”优先用于表达CD34和KIT的肿瘤。GIMTs由梭形或上皮样细胞组成，20%至30%表现出恶性行为，包括腹膜播散和血行转移。KIT表达及c-kit基因突变仅见于GISTs，而不见于肌源性或神经源性肿瘤。c-kit基因突变与侵袭性特征及预后不良相关，恶性GISTs常伴有c-kit基因突变。伴有或不伴有c-kit基因突变的GISTs的临床病理特征明显不同。因此，根据组织化学和遗传学数据，GIMTs可分为四大类：肌源性肿瘤；神经源性肿瘤；伴有c-kit基因突变的GISTs；以及不伴有c-kit基因突变的GISTs。GISTs的起源尚未完全明确。然而，与 Cajal间质细胞（ICCs）的表型相似性以及c-kit基因的功能获得性突变可能提示其起源于ICCs和/或分化为ICCs的多能间充质细胞。
