Craniopharyngioma

Diagnosis of craniopharyngioma is based on clinical presentation and imaging findings, supported by hormonal and genetic studies if needed:

• Brain MRI is the gold standard, revealing a cystic and/or solid mass near the pituitary gland, often with calcifications. 
• Visual field testing to assess optic nerve involvement.
• Endocrine evaluation to detect hormone deficiencies related to pituitary or hypothalamic dysfunction.
• Histological analysis after surgical biopsy or resection confirms the tumor type (adamantinomatous or papillary).
• Genetic testing may identify CTNNB1 or BRAF V600E mutations, which help differentiate subtypes.

Treatment of craniopharyngioma focuses on tumor control and management of long-term complications. Surgical resection is the primary treatment, aiming for complete or subtotal removal depending on tumor location and risk to surrounding structures. Radiation therapy, including proton beam therapy, is often used postoperatively or when surgery is not feasible.

Endocrine replacement therapy is essential for managing hormone deficiencies, and long-term monitoring is required. In some cases, targeted therapy (e.g., BRAF inhibitors) may be considered for papillary craniopharyngiomas with specific mutations. Early intervention and a multidisciplinary team, including neurosurgery, endocrinology, ophthalmology, and psychology, are critical to optimize outcomes and quality of life, particularly in children.