gms | German Medical Science

Objective: Desmoplastic infantile astrocytomas/gangliogliomas (DAI/DIG) are extremely rare glioneural tumours and are considered benign tumours (World Health Organization [WHO] grade one). In the majority of cases, they occur in infants younger than two years of age. Superficial location and complete surgical excision are associated with an excellent clinical outcome. In contrast, in cases of incomplete resection, these tumours seem to have a heterogenous biological behaviour rangig from complete or partial regression up to rapid tumour progression and occurrence of metastases

Method: We have retrospectively reviewed the medical records of four patients with DAI/DAG treated at our institution. Characteristics in regard to clinical symptoms, diagnostic imaging, surgical treatment, and follow-up treatment were analysed.

Results: A total of 4 patients (age range: 3 months–2 years; male: 2 female: 2) with DAI/DAG have been treated at our institution. Tumours were located in the superficial cortex in three cases, while one tumour was located on the skull base. In two cases of superficial tumour localization, complete surgical resection was carried out. Patients received no further specific treatment and follow-up examinations of up to 14 years after surgery revealed no tumour recurrence. In one case of partial resection of a superficially located tumour, complete spontaneous regression was observed after five years although no tumour-specific treatment was carried out. Partial resection of the skull-based DIA/DIG was followed by chemotherapy after genetic examination had revealed a BRAFV600E mutation and residual tumour had shown rapid progression shortly after surgical treatment.

Conclusions: Our reported cases support the evidence of the literature that complete surgical resection is the treatment of choice in this rare entity. In cases of partial surgical resection, malignant courses have been described and therefore, regular follow-up is mandatory in these patients. As these tumours may show high mitotic activity and cancer-associated gene mutations, further research into biologic pathways is warranted. Tumour-specific chemotherapy may promote a favourable clinical course in cases of partial resection.