Glial Heterotopia of the Uterine Cervix: DNA Genotyping Confirmation of Its Fetal Origin
AJ Siddon, P Hui. Yale University School of Medicine, New Haven, CT
Background: 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 such a hypothesis.
Design: 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 prior, the patient had a pregnancy termination of a fetus with Klinefelter's syndrome.
Results: 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 (GFAP) and S100 immunohistochemistry. DNA genotyping of the cervical polyp, the maternal, the first and second fetal tissue samples demonstrated an identical genetic profile between the cervical glial tissue and the first aborted fetus.
Genotyping also attested the presence of Klinefelter's syndrome of the first gestation and Down syndrome of the second gestation.
Conclusions: This molecular case study confirmed the fetal origin of uterine glial heterotopia.
Category: Gynecologic & Obstetrics
Monday, March 22, 2010 9:30 AM
Poster Session I Stowell-Orbison/Surgical Pathology/Autopsy Awards Poster Session # 162, Monday Morning