Department of Clinical Pathology, Kobe City Medical Center General Hospital, Kobe, Japan.
Pathol Int. 2014 Jan;64(1):34-8. doi: 10.1111/pin.12124.
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, and typically present as discrete well-circumscribed but non-encapsulated tumor masses. In this report, we describe a case of colonic perforation caused by an unusual form of GIST. A 72-year-old Japanese woman presented to the emergency department with acute abdominal pain. Under the provisional diagnosis of sigmoid colon perforation, a laparoscopic sigmoidectomy was performed. Although the tumor mass was undetectable during the preoperative examination, a spindle cell lesion with a diffuse longitudinal growth pattern replacing the muscularis propria was revealed by microscopic examination. The spindle cell lesion was exposed at the perforation, suggesting a causal relationship between the lesion and the perforation. The spindle cell lesion was KIT-positive and had a mutation in the C-KIT gene at exon 11. We diagnosed it as diffuse infiltrating GIST. We consider that the lesion would be a cause of the colonic perforation, and emphasize the importance of accurate diagnosis of the lesion by histological, immunohistochemical and genetic examinations.
胃肠道间质瘤（GISTs）是胃肠道最常见的间叶性肿瘤，通常表现为边界清楚但无包膜的离散肿瘤肿块。本报告描述了一例由一种不常见形式的 GIST 引起的结肠穿孔。一位 72 岁的日本女性因急性腹痛到急诊科就诊。根据乙状结肠穿孔的初步诊断，进行了腹腔镜乙状结肠切除术。尽管术前检查未发现肿瘤肿块，但显微镜检查显示，一种替代固有肌层的弥漫性纵向生长模式的梭形细胞病变。梭形细胞病变在穿孔处暴露，提示病变与穿孔之间存在因果关系。梭形细胞病变 KIT 阳性，C-KIT 基因外显子 11 突变。我们将其诊断为弥漫浸润性 GIST。我们认为病变是导致结肠穿孔的原因，并强调通过组织学、免疫组织化学和遗传学检查准确诊断病变的重要性。
