Background: Gangliogliomas arise very rarely in the pineal region, where their natural histories and pathologic features are poorly understood.
Case description: In this report, we describe a 36-year-old woman who presented with a seizure followed by worsening headache, dizziness, confusion, and intermittent left facial numbness over the next few weeks. A head CT scan showed a partially calcified pineal region mass with hydrocephalus. After an endoscopic third ventriculostomy, the patient underwent a resection of the tumor that contained dysplastic ganglion cells and piloid glial cells. Molecular profiling of this CNS WHO Grade 1 ganglioglioma revealed polysomies of chromosomes 7 and 9, and a BUB1 variant of uncertain significance, without known MAP kinase pathway alterations. From a review of the literature, we found two distinct age distributions for pineal ganglioglioma, with modes at 1 and 36 years of age.
Conclusion: Although very rare, this tumor should be considered in the differential diagnosis of pineal region tumors in children and young adults.
Keywords: Chromosome 7 polysomy; Epiphysis; Glioneuronal; Targeted next-generation sequencing; Tumor.
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