Papillary Tumor of Pineal Region; A Case Report

Background: Papillary tumor of the pineal region (PTPR) is a rare neuroepithelial tumor that was first classified by the World Health Organization (WHO) in 2003. The diagnosis of this tumor is challenging due to its imaging features, which overlap with those of other pineal region tumors, and due to the paucity of pediatric cases reported in the literature. Case Presentation: We present the case of a 4-year-old male patient who exhibited symptoms including progressive headaches, vomiting, and neurological deficits, such as upward gaze palsy and ataxia. Imaging revealed a pineal mass causing obstructive hydrocephalus, initially suspected to be germinoma. Following the placement of a ventriculoperitoneal shunt, the patient underwent gross total resection (GTR) of the tumor through a posterior fossa approach. Histopathological analysis confirmed PTPR (WHO grade 2/3), with papillary structures and immunohistochemical positivity for S100 and CD56. The patient received adjuvant radiotherapy to the surgical cavity (54 Gy in 1.8 Gy fractions), and no recurrence or neurological deficits were observed at the 6-month follow-up. Discussion: PTPR presents significant diagnostic and therapeutic challenges due to its nonspecific imaging features and critical anatomical location. GTR remains the primary treatment modality, often necessitating adjuvant radiotherapy to reduce the risk of recurrence. This case underscores the significance of multidisciplinary approaches and meticulous radiotherapy planning, particularly in pediatric patients, in achieving a balance between benefits and neurocognitive functions. Conclusion: This report underscores the necessity of considering PTPR in pediatric pineal masses and demonstrates that early diagnosis, surgical resection, and adjuvant radiotherapy can result in improved outcomes. Given the low five-year disease-free survival rate, regular and frequent follow-ups are crucial, with careful attention to every sign, symptom, and imaging change.