Lin Shee-Chan, Liu Chien-Liang, Wang Tzang-In, Chang Wen-Shiung, Tzen Chin-Yuan, Huang Ming-Jer
Division of Gastroenterology, Department of Internal Medicine, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
J Gastroenterol Hepatol. 2006 Oct;21(10):1604-8. doi: 10.1111/j.1440-1746.2006.04322.x.
To evaluate the clinical implications of C-kit gene mutation in patients with gastrointestinal stromal tumors (GIST) greater than 10 cm in size.
All cases of pathologically diagnosed GIST with positive CD117 immunostaining from one hospital were retrospectively reviewed. Tissue from the 25 patients with tumors greater than 10 cm in diameter were collected and DNA was extracted. Exons 9, 11, and 13 of the C-kit gene were analyzed and the mutations compared with the clinical and pathological characteristics of the corresponding tumors.
Of the 25 tumors studied, 16 had C-kit gene mutations and nine did not. Of the 16 with mutations, there were four with exon 9 mutations, 12 with exon 11 mutations, and none with exon 13 mutations. Gene mutations were more frequent in male than female patients (12/13, 92% vs 4/12, 33%). There were no significant differences in age, resectability, recurrence rate, tumor characteristics (ulceration, necrosis, hemorrhage and mitotic counts), or survival in patients with or without gene mutations.
C-kit gene mutations were frequently found in patients with large GIST, more commonly in men than in women. However, the presence of a mutation was not predictive of prognosis in patients with large GIST.
评估C-kit基因突变在直径大于10 cm的胃肠道间质瘤（GIST）患者中的临床意义。
回顾性分析某医院所有经病理诊断且CD117免疫染色阳性的GIST病例。收集25例肿瘤直径大于10 cm患者的组织并提取DNA。分析C-kit基因的第9、11和13外显子，并将突变情况与相应肿瘤的临床和病理特征进行比较。
在研究的25个肿瘤中，16个存在C-kit基因突变，9个没有。在16个有突变的肿瘤中，4个有第9外显子突变，12个有第11外显子突变，无第13外显子突变。男性患者的基因突变比女性患者更常见（12/13，92%对4/12，33%）。有或无基因突变的患者在年龄、可切除性、复发率、肿瘤特征（溃疡、坏死、出血和核分裂象计数）或生存率方面无显著差异。
在大的GIST患者中经常发现C-kit基因突变，男性比女性更常见。然而，突变的存在并不能预测大GIST患者的预后。
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