Desmoplastic infantile astrocytoma/ganglioglioma

Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma (DIG) are rare, low-grade brain tumors that typically present in infancy, usually within the first 18 months of life. These tumors are classified together as they share similar clinical and pathological features, differing primarily in their cellular composition — DIA is composed predominantly of neoplastic astrocytes, while DIG also contains a neuronal (ganglionic) component. Both are classified as WHO grade I tumors. They characteristically arise in the cerebral hemispheres, often involving the superficial cortex and leptomeninges, and are notable for their prominent desmoplastic (dense connective tissue) stroma. These tumors are frequently large and may involve multiple lobes. Affected infants typically present with rapidly increasing head circumference (macrocephaly), a bulging fontanelle, and signs of increased intracranial pressure such as vomiting, irritability, and lethargy. Seizures and focal neurological deficits may also occur depending on tumor location. Neuroimaging usually reveals a large, superficially located cystic mass with a solid, contrast-enhancing component attached to the meninges. Despite their often alarming size and appearance on imaging, DIA and DIG generally carry a favorable prognosis. The primary treatment is surgical resection, and gross total removal of the tumor is often curative, with excellent long-term survival rates. Adjuvant chemotherapy or radiation therapy is generally reserved for cases where complete surgical resection is not achievable or in the rare instances of tumor recurrence or progression. Although most cases follow a benign course, rare cases with anaplastic features or incomplete resection may have a less favorable outcome. The etiology of these tumors remains largely unknown, and no consistent genetic predisposition has been established.

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