胎儿颈部水囊状淋巴管瘤尸体解剖40例观察

Ciinicopathologic features of fetal nuchal cystic hygroma： report of 40 cases

目的探讨胎儿颈部水囊状淋巴管瘤的发病机制、病理特征、分型及预后等。方法收集2003年1月至2012年12月40例胎儿颈部水囊状淋巴管瘤的尸检资料，复习HE切片，并行相关免疫组织化学EnVision法染色，分析其发病机制及病理特征。结果40例胎儿颈部水囊状淋巴管瘤病例中，16例（40．0％）为单发畸形，24例（60．0％）合并其他器官和／或系统的畸形。19例囊肿腔内有分隔结构，无分隔者为21例。合并的畸形包括呼吸、骨骼、泌尿等多个系统的畸形，部分病例可有脐带异常，其中单脐动脉3例，脐带扭细1例。4例有染色体检查结果，均为21三体综合征。结论胎儿颈部水囊状淋巴管瘤是一种罕见的疾病，病因不明，并非是真正的肿瘤。根据淋巴管扩张的程度不同分3型：毛细管型淋巴管瘤、海绵状淋巴管瘤、囊状淋巴管瘤。其预后与是否有染色体异常、合并畸形及淋巴管瘤检出的时间有关。

Objective To study the pathogenesis, pathologic features and prognosis of fetal nuchal cystic hygroma. Methods Forty autopsied cases of fetal nuchal cystic hygroma were collected during January 2003 to December 2012. The clinical history, pathologic changes and immunohistochemical （EnVision method） findings were reviewed, and the pathogenesis and pathologic characteristics were analyzed. Results Of the 40 cases, 16（40. 0% ） showed single malformation and 24 （60. 0% ） were associated with multiple malformations in other organs and/or systems. Nineteen cases were septated and 21 were not. The associated malformations occurred in the respiratory system, skeletal system and urinary system. In the cases of combined malformations of umbilical cord, 3 were single umbilical artery malformations and 1 was torsion and stricture of umbilical cord. Four cases had chromosomal analysis, and all were trisomy-21. Conclusions Fetal nuchal cystic hygroma is a rare disease. The etiology is unknown, but it is not neoplastic. Lymphangioma is divided into 3 types： capillary lymphangioma, cavernous lymphangioma and cystic hygroma according to their expansile growth pattern. The overall prognosis is determined by any co-existing chromosomal anomalies, associated malformations and the time of diagnosis of tbe cystic hygroma.