Craniopharyngioma

Craniopharyngioma is a rare, benign (non-cancerous) brain tumor that typically arises near the pituitary gland and hypothalamus. Although it does not spread to other parts of the body, its location in the brain can lead to significant hormonal and neurological symptoms. Craniopharyngiomas develop from remnants of Rathke’s pouch, an embryonic precursor to parts of the pituitary gland.

These tumors often cause symptoms by pressing on nearby structures, leading to hormone imbalances (such as growth hormone deficiency or adrenal insufficiency), vision problems due to optic nerve compression, and issues with appetite, sleep, or body temperature regulation. They are most commonly diagnosed in children and adolescents but can also occur in adults. The severity of symptoms and treatment outcomes vary depending on the tumor’s size, location, and response to therapy, which may include surgery, radiation, and lifelong hormone replacement.

Craniopharyngioma is classified into two main histological types, each with distinct features and typical age of onset:

Adamantinomatous craniopharyngioma (ACP)

More common in children, ACP often contains cystic areas, calcifications, and “wet keratin.” It arises from remnants of embryonic tissue and is associated with CTNNB1 gene mutations. Symptoms include growth hormone deficiency, visual disturbances, and hypothalamic dysfunction. It has a higher chance of recurrence after treatment.

Papillary craniopharyngioma (PCP)

Typically found in adults, PCP is more solid with fewer cysts or calcifications. It is linked to BRAF V600E mutations and shows different molecular behavior compared to ACP. Common symptoms include headaches, vision problems, and hormonal imbalances. It tends to recur less often than ACP.

Symptoms of craniopharyngioma vary depending on the patient’s age, tumor size, and location. In children, symptoms often result from pressure on the pituitary gland, hypothalamus, or optic nerves. Common early signs include growth failure, delayed puberty, and vision problems. Headaches and vomiting may occur due to increased intracranial pressure. As the tumor grows, it can lead to hormonal deficiencies (such as adrenal insufficiency, hypothyroidism, and diabetes insipidus), sleep disturbances, appetite changes, and problems with memory or behavior. In severe cases, hypothalamic damage may result in obesity, temperature dysregulation, and emotional instability.

In adults, symptoms may appear more gradually and include fatigue, visual field defects, hormonal imbalance, and chronic headaches. Without treatment, craniopharyngioma can lead to significant long-term complications, especially related to endocrine and cognitive function.

Craniopharyngioma is caused by genetic mutations that lead to abnormal growth of embryonic tissue near the pituitary gland.

The adamantinomatous type, typically seen in children, is associated with CTNNB1 gene mutations affecting the Wnt/β-catenin pathway. The papillary type, more common in adults, is linked to BRAF V600E mutations. These mutations drive tumor formation by disrupting normal cell signaling.

Craniopharyngiomas are not inherited and usually occur sporadically. The specific genetic alterations help explain differences in behavior and treatment response between the two types.