外阴阴道肺泡软部肉瘤中的ASPL-TFE3易位

ASPL-TFE3 translocation in vulvovaginal alveolar soft part sarcoma.

作者信息

Jabbour Mark N, Seoud Muhieddine, Al-Ahmadie Hikmat, Abdul-Karim Fadi W, Zaatari Ghazi S

机构信息

Departments of Pathology and Laboratory Medicine (M.N.J., G.S.Z.) Obstetrics and Gynecology (M.S.), American University of Beirut Medical Center, Beirut, Lebanon Department of Pathology (H.AL-A), Memorial Sloan-Kettering Cancer Center, New York, New York Department of Anatomic Pathology (F.W.A-K), Cleveland Clinic, Cleveland, Ohio.

出版信息

Int J Gynecol Pathol. 2014 May;33(3):263-7. doi: 10.1097/PGP.0b013e318290407c.

DOI:10.1097/PGP.0b013e318290407c

PMID:24681737

Abstract

Alveolar soft part sarcoma of the vulvovaginal region is limited to only 8 reported vaginal cases and 1 vulvar case in the English literature. The histogenesis of the tumor remains intriguing with postulates favoring a myogenic versus nonmyogenic origin. A reciprocal translocation for ASPL-TFE3 gene fusion, frequently detected in ~90% of cases, combined with TFE3 protein immunoexpression are highly sensitive and specific methods for diagnostic confirmation. The current report describes a unique case of vulvovaginal alveolar soft part sarcoma showing the classic morphologic features with documentation of TFE3 protein expression and the ASPL-TFE3 gene rearrangement. Furthermore, a brief review of the literature of vulvar and vaginal alveolar soft part sarcoma cases with the various treatment modalities is outlined.

摘要

外阴阴道区域的肺泡软组织肉瘤在英文文献中仅有8例阴道病例和1例外阴病例的报道。肿瘤的组织发生仍然很有趣，有观点支持其起源于肌源性与非肌源性。在约90%的病例中经常检测到的ASPL-TFE3基因融合的相互易位，结合TFE3蛋白免疫表达，是诊断确认的高度敏感和特异的方法。本报告描述了一例独特的外阴阴道肺泡软组织肉瘤病例，其具有典型的形态学特征，并记录了TFE3蛋白表达和ASPL-TFE3基因重排。此外，还概述了有关外阴和阴道肺泡软组织肉瘤病例及各种治疗方式的文献简要综述。