132例合并原发性消化道癌的胃肠道间质瘤临床病理特征
| 作者: |
1丁鑫,
1殷平,
1陈琪琪,
1廖洪锋,
2Hong Annie S.
1 厦门大学附属中山医院病理科，福建 厦门 361004 2 美国内华达大学拉斯维加斯分校医学院内科，美国 内达华州 拉斯维加斯 89154 |
| 通讯: |
丁鑫
Email: 673785595@qq.com |
| DOI: | 10.3978/j.issn.2095-6959.2020.03.008 |
| 基金: | 福建省卫生厅青年科研课题(2012-2-82)。 |
摘要
目的：探讨合并原发性消化道癌的胃肠道间质瘤(gastrointestinal stromal tumors，GISTs)的临床病理特点。方法：回顾性分析689例GISTs患者的临床病理资料，从中筛选出132例合并原发性消化道癌的GISTs患者及512例单纯GISTs患者，对比分析其临床病理特征、免疫表型特征；部分合并原发性消化道癌的GISTs病例采用直接测序法检测c-Kit基因9，11，13和17外显子的突变情况，与已知GISTs基因突变情况进行比较。结果：合并原发性消化道癌的GISTs占同期全部GISTs的19.2%(132/689)。与单纯GISTs相比，其发病年龄较高，男性明显多于女性。GISTs最大径0.1~8.0(平均1.1) cm，其中92.4%(122/132)为小间质瘤；多数核分裂象<5个/50个高倍视野(HPF)。免疫组织化学显示CD117和CD34的阳性率均为97.7%(129/132)，DOG-1阳性率99.2%(131/132)，约94.7%的病例Ki-67阳性率<2%。绝大多数为低危和极低危；47.9%(23/48)的病例检测到c-Kit基因突变，均为11外显子的突变，未发现外显子9，13和17突变。其中52.2%(12/23)为点突变，是本组11外显子突变最常见的状态，其次是缺失突变，约为43.5%(10/23)，插入突变约为4.3%(1/23)。结论：GISTs与消化道癌伴发并不是一个罕见的或特殊的现象，这种GISTs常发生在胃，绝大多数小GISTs，确诊需依靠病理，其形态学及免疫组织化学以及分子检测结果与单纯GISTs无明显差异。往往是偶然被发现，其潜在的恶性风险较低，GISTs复发的概率远低于原发癌，因此要避免过度治疗。
关键词：
胃肠道间质肿瘤；胃肠道肿瘤；临床病理特征
Clinicopathological features of 132 cases of gastrointestinal stromal tumors with primary gastrointestinal carcinoma
CorrespondingAuthor: DING Xin Email: 673785595@qq.com
DOI: 10.3978/j.issn.2095-6959.2020.03.008
Foundation: This work was supported by the Youth Scientific Research Project of Fujian Provincial Health Department, China (2012-2-82).
Abstract
Objective: To analyze the clinicopathological feature of gastrointestinal stromal tumors (GISTs) with primary gastrointestinal carcinoma. Methods: A total of 689 cases of GISTs were retrospectively analyzed, 132 cases GISTs with primary gastrointestinal carcinoma and 512 cases single GISTs among them were screened, and the clinicopathological and immunohistochemistry feature were also observed. The mutations of exons 9, 11, 13 and 17 of c-Kit gene were detected by direct sequencing in some cases of GISTs with primary gastrointestinal cancer, and compared with those of single GISTs gene. Results: The proportion of GISTs with primary gastrointestinal cancer to all the GISTs in the same period was 19.2% (132/689). Compared with single GISTs, the patients are significantly older and the majority are males. The maximum diameter of GISTs ranged from 0.1 cm to 8.0 cm, with an average of 1.1 cm, of which 92.4% (122/132) were small stromal tumors. Most mitotic figures are less than <5/50 high power field (HPF). Immunohistochemistry showed that the positive rates of CD117 and CD34 were 97.7% (129/132), DOG-1 was 99.2% (131/132), and Ki-67 index was less than 2% in 94.7% of cases. The majority cases showed low-risk and very low-risk of GISTs risk stratification. C-Kit gene mutations were detected in 47.9% of the cases, all of which were exon 11 mutations in exon, and no mutations in exon 9, 13 and 17 were found. Among them, 52.2% (12/23) was point mutation, which was the most common mutation in exon 11, followed by deletion mutation, which was about 43.5% (10/23) and insertion mutation, which was about 4.3% (1/23). Conclusion: The concomitant occurrence of GISTs and gastrointestinal cancer is not a rare or special phenomenon. This kind of GISTs often occur in stomach. Most of them were small GISTs. The diagnosis depends on pathology. There was no significant difference in morphology, immunohistochemistry, molecular detection with single GISTs. These GISTs were often found by accident, and their potential risk of malignancy was low. The probability of recurrence of GISTs was much lower than that of primary cancer. Therefore, overtreatment should be avoided.
Keywords：
gastrointestinal stromal tumors; gastrointestinal neoplasms; clinicopathological features