CAJ | 학술논문

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。
목적：탐토외음급직장음도격위장도외간질류( extragastrointestinal stromal tumor, EGIST)적림상병이학특정、진단、감별진단급예후。방법대1예외음급2례직장음도격EGIST적림상자료、병이학특점、면역표형、기인돌변、치료급예후진행분석,병복습상관문헌。결과례1,59세,우측외음견일종물,4．4 cm ×3 cm ×3 cm대소,술후6개월복발。례2,58세,직장음도격견일7．3 cm ×6．1 cm ×4．6 cm대소종물。례3,41세,직장음도격견일8．6 cm ×7．4 cm ×6．7 cm대소종물。경하견류세포사형,정편직상、선와상급책란상배렬,핵분렬상균역견。면역표형：3례CD117、CD34、NES급H-Caldesmon균양성,SMA、desmin급S-100균음성；례1화례3 DOG-1정양성。3례균존재c-Kit기인11호외현자돌변。결론외음、음도급직장음도격균가발생EGIST,면역조화급분자검측유조우진단화지도치료。
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 cm 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.