ID #1197 Primary intracranial high grade congenital glial lesions (PIHCGL) A systematic review of case reports from 2000 to 2024

Background Among congenital intracranial space-occupying lesions, teratomas, gliomas, and neuroblastomas are more frequently reported. However, primary congenital glioblastoma (cGBM) and congenital anaplastic astrocytoma (cAA) are underrecognized entities. Their detection remains challenging due to nonspecific prenatal findings and limited awareness among pediatricians and obstetric care providers, contributing to delayed diagnosis and worsened outcomes. Objective To summarize the clinical presentations, diagnostic imaging characteristics, reported cases, histopathological features, and neuro-oncological management strategies of PIHCGL. Methodology A systematic literature search was conducted over PubMed and Google scholar according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to retrieve all articles published from 2000 to 2023 reporting congenital high grade lesions by using keywords. Results Of the 35 studies (44 patients) included, 84% (37) had cGBM, and 15.9% (7) had cAA. The mean age at diagnosis was 32.1±4.6 weeks (fetus) and 2.23±2.75months (neonates), with predominance of male (45.4%) and full-term (52.2%). Common symptoms were macrocephaly (27.7%) and tense anterior fontanelle (25%) and motor deficit (22.2%). Most of the lesions were intracerebral (72.7%), with equal left-right laterality. Surgical excision was done in 70.4% patients, with gross total resection in 38.4% patients and CSF diversion surgeries were performed in 25% patients. The most frequently reported positive immunohistochemical marker was GFAP (77.2%). Monosomy 17, tetraploidy, loss of Y-chromosome, translocation t(6;12)(q21;q24.3), and a ZCCHC8–ROS1 gene fusion were identified on genetic testing. Chemotherapy was given in 52.2% patients with favorable response in 43.4% patients. The mean follow-up period was 27.2±38.8 months with a recurrence rate of 18.1% and mortality rates of 50% (42.8% within 24 hours after birth). Conclusion The cGBM and cAA are two rare congenital high grade lesions, predominant in full-term male neonates with high mortality rates in immediate postnatal period. Patients receiving combined surgical and chemotherapy treatment had favorable outcomes. Genetic testing and immunohistochemistry aids in early diagnosis.