Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
Int J Gynecol Pathol. 2010 Jul;29(4):394-7. doi: 10.1097/PGP.0b013e3181c5a7e8.
Uterine glial heterotopia is a rare, yet biologically intriguing lesion, mostly involving the cervix. Although an implantation of the fetal brain tissue is widely accepted as the etiology, there has been no confirming evidence to support this hypothesis. We investigated a case of polypoid glial heterotopia of the uterine cervix in a 42-year-old woman who underwent an elective termination of pregnancy of a Down syndrome fetus. One year earlier, the patient had a pregnancy termination of a fetus with Klinefelter's syndrome. Gross and microscopic examination revealed a 2.5 cm polypoid cervical lesion consisting of lobulated mature glial tissue covered by endocervical glandular epithelium. The neural nature of the lesion was confirmed by glial fibrillary acidic protein and S100 immunohistochemistry. DNA genotyping of the cervical polyp, maternal, first and second fetal tissue samples showed an identical genetic profile between the cervical glial tissue and the first aborted fetus. Genotyping also attested the presence of Klinefelter's syndrome in the first gestation and Down syndrome in the second gestation. Therefore, this molecular case investigation confirms the fetal origin of uterine glial heterotopia.
子宫神经胶质异位是一种罕见但生物学上有趣的病变，主要涉及宫颈。尽管广泛接受胎儿脑组织的植入是其病因，但尚无证实这一假说的证据。我们研究了一例 42 岁女性宫颈息肉状神经胶质异位的病例，该患者因唐氏综合征胎儿选择性终止妊娠。一年前，该患者因患有克林费尔特综合征的胎儿而终止妊娠。大体和显微镜检查显示，一个 2.5 厘米的宫颈息肉状病变，由被宫颈腺上皮覆盖的分叶状成熟神经胶质组织组成。病变的神经性质通过胶质纤维酸性蛋白和 S100 免疫组化得到证实。宫颈息肉、母亲、第一和第二胎儿组织样本的 DNA 基因分型显示宫颈神经胶质组织与第一个流产胎儿之间存在相同的遗传特征。基因分型还证实了第一胎的克林费尔特综合征和第二胎的唐氏综合征。因此，该分子病例研究证实了子宫神经胶质异位的胎儿起源。
