gms | German Medical Science

Objective: Among the rare entity of congenital or probably congenital brain tumors, glioblastoma is found in a small minority of infants, with less than 50 cases reported in the literature. Here we describe our experience with glioblastoma presenting in the first year of life.

Methods: The institutional database of the last 10 years was retrospectively reviewed for brain tumors diagnosed in children younger than one year. Only cases with histological confirmation were included. Glioblastoma cases were selected and relevant variables obtained from electronic patient notes.

Results: Three cases of glioblastoma were identified. All infants were male and initial cranial imaging demonstrated hemorrhagic lesions in all cases. Case 1 was diagnosed antenatally with a large right frontal lesion with involvement of the corpus callosum. Postnatal MRI demonstrated and extensive tumor with hemorrhage and occlusive hydrocephalus. A biopsy was performed, but no further treatment was pursued and the child died within one month. Case 2 was diagnosed antenatelly with intraventricular hemorrhage. An endoscopic biopsy was performed, followed by two microsurgical resections, VP shunt implantation and chemotherapy according to the HIT-SKK protocol. Progression free survival is currently one year. Case 3 presented with acute coma at an age of 8 months. CT demonstrated a hemorrhagic bifrontal lesion. Three microsurgical resections and a VP shunt implantation were performed, followed by HIT-SKK chemotherapy. The progression free survival is currently 6 years. The child has a significant developmental delay, focal epilepsy and residual hemiparesis. In this case series, molecular biology analyses revealed IDH1 wild-type (N=3), TERT wild-type (N=2), histone H3.3 variant H3F3A wild-type (N=2) and an unmethylated MGMT promoter region (N=1).

Conclusion: In this case series of glioblastoma diagnosed in the first year of life, a male predominance and hemorrhagic presentation were noted. In cases where an aggressive multimodal treatment protocol including repeated microsurgical resections and adjuvant chemotherapy was pursued, a favourable prognosis could be achieved. However, congenital or probably congenital glioblastoma is a therapeutic challenge and requires careful interdisciplinary assessment and management. In addition to oncological tumor control, the issue of long-term sequelae is highly relevant and has to be included in counselling of parents.