Epigenetic mechanisms, including DNA methylation, that underlie neuropsychiatric conditions have become a promising area of research. Most commonly used DNA sources in such studies are peripheral (whole) blood (WB), saliva (SL), and lymphoblastoid cell lines (LCLs); thus, the question of the consistency of DNA methylation patterns in those cells is of particular interest. To investigate this question we performed comparative analyses of methylation patterns in WB, SL, and LCLs derived from the same individuals, using Illumina HumanMethylation27 BeadChip arrays. Our results showed that DNA methylation patterns in SL are relatively consistent with those in WB, whereas the patterns in LCLs are similarly distinct from both WB and SL. The results indicated that due to multiple random and directed changes in DNA methylation throughout cell culturing, LCLs are not a reliable source of DNA for epigenetic studies and should be used with caution when investigating epigenetic mechanisms underlying biological processes.

Orbital glial heterotopia, commonly considered a rare congenital lesion generally presenting in children, may first become symptomatic in adulthood. Biopsy is required for diagnosis, with symptoms and prognosis dependent on location and growth of the lesion. Purpose: To review the clinical radiographic and histopathologic findings associated with orbital glial heterotopia. Methods: A literature search in PubMed and Scopus was performed to include all articles published in English between 1980 and January 1, 2019. A case series including 29 case reports of 29 patients, as well as the authors’ 2 cases, were considered in the literature review. Results: The majority of the cases had onset of symptoms (86%) and age at presentation (71%) before 5 years of age. The most common presenting symptoms and signs were swelling (45%), strabismus (32%), and proptosis (26%). The most common lesion locations described were inferolateral (19%) or primarily posterior orbital or apical (19%). The most common findings associated with orbital glial heterotopia were microphthalmia (10%) and anophthalmia (6%); however, the majority did not have systemic abnormalities (71%). The most common imaging modality was CT scan (71%). Diagnosis was made with histologic analysis in all cases, and confirmed after subtotal resection (35%), total resection (39%), or incisional biopsy (26%). The majority of the cases report no growth on repeat imaging, with only 3 reports of recurrence. Conclusions: Glial heterotopia in the orbit is a rare clinical entity most commonly presenting in children. We present 2 cases of orbital glial heterotopia in adults, with a literature on these lesions in both the pediatric and adult populations. Surgeons and pathologists should be aware of this atypical presentation in adulthood. Biopsy is required for diagnosis but is not without risk. Prognosis is generally favorable.

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