摘要
目的探讨外阴及直肠阴道隔胃肠道外间质瘤(extragastrointestinal stromal tumor,EGIST)的临床病理学特征、诊断、鉴别诊断及预后。方法对1例外阴及2例直肠阴道隔EGIST的临床资料、病理学特点、免疫表型、基因突变、治疗及预后进行分析,并复习相关文献。结果例1,59岁,右侧外阴见一肿物,4.4 cm×3 cm×3 cm大小,术后6个月复发。例2,58岁,直肠阴道隔见一7.3 cm×6.1 cm×4.6 cm大小肿物。例3,41岁,直肠阴道隔见一8.6 cm×7.4 cm×6.7 cm大小肿物。镜下见瘤细胞梭形,呈编织状、漩涡状及栅栏状排列,核分裂象均易见。免疫表型:3例CD117、CD34、NES及H-Caldesmon均阳性,SMA、desmin及S-100均阴性;例1和例3 DOG-1呈阳性。3例均存在c-Kit基因11号外显子突变。结论外阴、阴道及直肠阴道隔均可发生EGIST,免疫组化及分子检测有助于诊断和指导治疗。
Purpose To study the clinic-pathological features, differential diagnosis and prognosis of extragastrointestinal stromal tumor （EGIST） arising in the vulva and the rectovaginal septum. Methods Clinical manifestations, pathological features, immunohisto- chemistry, gene mutations, treatment and prognosis were analyzed in 1 case of EGIST arising in the vulva and 2 cases of EGIST arising in the rectovaginal septum with review of related literature. Results Case 1 was a 59-years-old woman who was found to have a 4.4 cm×3 cm×3 em recurrent mass in the right vulva after 6 months of the first resection. Case 2 was a 58-years-old woman who presen- ted with a 7. 3 cm×6. 1 cm×4. 6 cm mass in the rectovaginal septum. Case 3 was a 41-year-old woman who presented with an 8. 6 cm ×7.4 cm× 6. 7 cm mass in the rectovaginal septum. Histologically, the uniform spindle cells showed the interlacing fascicular, whirl- pool and palisade patterns with high cellular density. Mitotic figures were readily identified. Immunohistochemical evaluation revealed that the tumor cells exhibited strong and diffuse staining for CD117, CD34, NES, H-Caldesmon and DOG-1. Molecular analysis showed the gene mutation of c-Kit exon 11 in all 3 cases. Conclusion EGIST should be considered in the differential diagnosis of the mesenchymal tumors arising in the vulva and the rectovaginal septum. The immunohistochemical evaluation and molecular genetic tes- ting are crucial tools for the differential diagnosis and assessment of the prognosis and targeted therapy of EGIST.
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2015年第4期376-379,共4页
Chinese Journal of Clinical and Experimental Pathology
关键词
外阴肿瘤
阴道肿瘤
胃肠道外间质瘤
直肠阴道隔
vulva neoplasms
vagina neoplasms
extragastrointestinal stromal tumor
rectovaginal septum
