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横结肠穿孔型平面型胃肠道间质瘤 1 例

A case of planar-type gastrointestinal stromal tumor of the transverse colon with perforation.

机构信息

Department of Diagnostic Pathology, Higashiosaka City Medical Center, 3-4-5 Nishi-iwata, Higashiosaka, Osaka, 578-8588, Japan.

Department of Gastroenterological Surgery, Higashiosaka City Medical Center, Higashiosaka, Japan.

出版信息

Clin J Gastroenterol. 2021 Aug;14(4):1157-1162. doi: 10.1007/s12328-021-01385-8. Epub 2021 Mar 16.

DOI:10.1007/s12328-021-01385-8
PMID:33728873
Abstract

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor of the human gastrointestinal tract. They usually develop in the stomach and small intestine, but extremely rarely in the colon. Although most GISTs form a mass, some cases showing a flatly proliferating lesion called planar-type GIST have been reported in the sigmoid colon and small intestine. Those are often associated with diverticular lesion and/or perforation. We present here a case of planar-type GIST of the transverse colon with perforation. A 49-year-old Japanese woman abruptly complained of abdominal pain, and was clinically diagnosed as perforation of the transverse colon. Partial resection of the transverse colon including the perforated site was done, and no apparent mass lesion was present. Histology showed that spindle cells flatly proliferated around the perforated area and replaced the layers from submucosa to subserosa. Immunohistochemistry revealed that the spindle cells were KIT-, DOG1- and CD34-positive. Codons 557 and 558 of exon 11 of the c-kit gene were heterozygously deleted at the lesional tissue but not at the normal mucosal tissue. Planar-type GIST of the transverse colon has not been reported yet, and the literature search for the similar cases was done.

摘要

胃肠道间质瘤(GISTs)是人类胃肠道最常见的间叶性肿瘤。它们通常发生在胃和小肠,但极罕见于结肠。尽管大多数 GISTs 形成肿块,但在乙状结肠和小肠中已报道了一些表现为扁平增殖病变的病例,称为平面型 GIST。这些病变常与憩室病变和/或穿孔有关。我们在此报告一例横结肠穿孔的平面型 GIST。一位 49 岁的日本女性突然出现腹痛,并被临床诊断为横结肠穿孔。进行了包括穿孔部位在内的横结肠部分切除术,没有明显的肿块病变。组织学显示,在穿孔区域周围,梭形细胞呈扁平状增殖,并替代了从黏膜下层到浆膜下层的各层。免疫组织化学显示,这些梭形细胞 KIT-、DOG1-和 CD34-阳性。c-kit 基因外显子 11 的 557 和 558 密码子在病变组织中杂合缺失,但在正常黏膜组织中没有缺失。横结肠的平面型 GIST 尚未报道,我们对类似病例进行了文献检索。

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本文引用的文献

1
Long segmental hyperplasia of interstitial cells of Cajal with giant diverticulum formation.伴有巨大憩室形成的长节段Cajal间质细胞增生
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2
Sporadic segmental Interstitial cell of cajal hyperplasia (microscopic GIST) with unusual diffuse longitudinal growth replacing the muscularis propria: differential diagnosis to hereditary GIST syndromes.散发性节段性 Cajal 间质细胞增生(显微镜下的胃肠道间质瘤),具有不寻常的弥漫性纵向生长,取代固有肌层:与遗传性胃肠道间质瘤综合征的鉴别诊断。
Int J Clin Exp Pathol. 2010 May 31;3(5):549-56.
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Regional and transmural density of interstitial cells of Cajal in human colon and rectum.
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