Testroote Mark, Hoornweg Marije, Rhemrev Steven
Department of Surgery, Medisch Centrum Haaglanden, Aan de Pas 15, 5935 VK Steyl, Den Haag, The Netherlands.
Dig Dis Sci. 2007 Apr;52(4):1047-9. doi: 10.1007/s10620-006-9160-y. Epub 2007 Feb 1.
This case report presents an incidental finding of a rectal GIST (gastrointestinal stromal tumor) presenting as a submucosal calculus, not previously reported. A 53-year-old man without a significant medical history presented with abdominal pain in the left lower quadrant, and with constipation. Upon rectal examination, a hard submucosal swelling was palpated 4 cm from the anus, at 3 o'clock, in the left rectum wall. X-ray photos, computerized tomography (CT)-scan and a magnetic resonance imaging (MRI) scan clearly showed a calculus. Excision revealed a turnip-like lesion, 3.1 x 2.3 x 1.8 cm. Analysis showed it was a rectal GIST, a rare mesenchymal tumor of the gastrointestinal tract, which expressed CD117 (or c-kit, a marker of kit-receptor tyrosine kinase) and CD34. Calcification is not a usual clinicopathological feature of GISTs [1-3], and although a number of rectal GISTs have been reported [4-9], we have found no cases so far of rectal GIST presenting as a submucosal calculus. In general, GISTs are rare mesenchymal tumors of the gastrointestinal tract (nerve tissue, smooth muscle). Histology and immunohistochemistry discriminate gastrointestinal stromal tumors from leiomyomas and neurinomas. The most important location is the stomach; the rectal location is rare. Usually, the classic signs of malignancy such as cellular invasion and metastasis are missing. A set of histologic criteria stratifies GIST for risk of malignant behavior such as mitotic activity and tumor size, cellular pleomorphism, developmental stage of the cell and quantity of cytoplasma [7,13]. Tumors with a high mitotic activity and size above 5 cm are considered malignant. Recent pharmacological advances such as tyrosine kinase inhibitors have determined c-kit (i.e., CD117) as the most important marker, amongst others. C-kit positive tumors respond extremely well to chemotherapy with Imatinib (Glivec, Gleevec) [10-12].
本病例报告展示了一例罕见的直肠胃肠道间质瘤(GIST),其表现为黏膜下结石。此前并无相关报道。一名53岁男性,无重大病史,因左下腹疼痛及便秘前来就诊。直肠检查时,在距肛门4厘米、直肠左侧壁3点钟位置触及一个坚硬的黏膜下肿物。X光照片、计算机断层扫描(CT)及磁共振成像(MRI)扫描均清晰显示为结石。切除物为一个芜菁样肿物,大小为3.1×2.3×1.8厘米。分析显示其为直肠GIST,一种罕见的胃肠道间质瘤,表达CD117(或c-kit,一种kit受体酪氨酸激酶标记物)及CD34。钙化并非GIST常见的临床病理特征[1-3],尽管已有多例直肠GIST的报道[4-9],但目前尚未发现表现为黏膜下结石的直肠GIST病例。一般而言,GIST是胃肠道罕见的间质瘤(神经组织、平滑肌)。组织学及免疫组化可将胃肠道间质瘤与平滑肌瘤及神经鞘瘤区分开来。其最常见的发病部位是胃;直肠发病较为罕见。通常,其缺乏细胞侵袭和转移等典型的恶性征象。一组组织学标准可对GIST的恶性行为风险进行分层,如有丝分裂活性、肿瘤大小、细胞多形性、细胞发育阶段及细胞质数量等[7,13]。有丝分裂活性高且肿瘤大小超过5厘米的肿瘤被视为恶性。近期如酪氨酸激酶抑制剂等药理学进展已确定c-kit(即CD117)为最重要的标记物之一。c-kit阳性肿瘤对伊马替尼(格列卫)化疗反应极佳[10-12]。