卵巢成熟性囊性畸胎瘤癌变临床病理及基因检测分析

Pathology Characteristic Analysis of Ovarian Mature Teratoma with Malignant Cystic Transformation

目的:探讨卵巢成熟性囊性畸胎瘤(MCT)癌变的临床病理特点及基因检测情况。方法:回顾性分析2011至2013年间我院收治的12例卵巢MCT癌变患者的临床病理资料,并进行基因突变检测。结果:12例MCT癌变全部发病于一侧卵巢,4例出现下腹疼痛。4例MCT最长径大于10cm。10例于术前行血清CEA、CA125、CA199检查的患者,至少有一种肿瘤标志物升高。术前超声检查结合临床病史和血清标志物检查,有7例诊断可疑畸胎瘤癌变。12例癌变包括鳞癌5例,各型腺癌7例。巨检示鳞癌囊壁部分增厚;腺癌可见附壁乳头。免疫组化示鳞癌CK5/6、P63(+),腺癌CK20、Villin、CDX2(+)。基因检测示肠型腺癌2例均发生KRAS基因突变。11例进行全子宫切除术+双侧附件切除术,1例行单侧附件切除术+输卵管通液术。结论:结合临床病史、术前超声及血清肿瘤标志物检查可一定程度诊断卵巢MCT癌变。术中常见MCT囊壁增厚及附壁乳头。KRAS基因突变检测可能辅助判断卵巢MCT癌变。

Objective： To explore the clinical pathology characteristics in malignant transformation of mature cystic teratoma（ MCT） and the related gene detection. Methods： The clinical data of 12 patients with malignant transformation of MCTs in ovaries in Wuhan Union Hospital from 2011 to 2013 were retrospectively analyzed,and gene mutation analysis was performed in malignant component of MCTs. Results： All the 12 cases of ovarian mature teratoma with malignant cystic transformation was in unilateral ovary,4 cases with lower abdominal pain. The long diameters of the mass in 4 cases were〉10 cm. Serum CEA、CA125、CA199were detected in 10 cases,with at least one tumor marker elevation. By the ultrasound examination and clinical history and the tumor marker detection,7 cases were suspected malignant cystic transformation. In 12 cases,there were 5 cases of ovarian MCT with squamous carcinoma,7 cases of MCT with adenocarcinoma of different types. Macroscopic evaluation found that squamous carcinoma had partly thickening nodules,while there were mural papillary protrusions inside adenocarcinoma. Immunohistochemical staining showed CK5 /6,P63 positivity in squamous cell carcinoma and Villin,CK20 and CDX-2 positivity in adenocarcinoma. Gene mutation analysis showed two cases of intestinal adenocarcinoma occupying KRAS mutation. 11 atients underwent total hysterectomy and bilateral salpingo oophorectomy.Conclusions： Combination with clinical history,preoperative imaging results and laboratory results can predict whether teratoma has malignant transformation or not. If thickening wall and mural nipple were found during operation,the tumor should be sent for fast frozen cross-section. KRAS gene mutation may be helpful in predicting malignant transformation.