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What is A 10-year-old male child with sho stature presented to the pediatric OPD with complaints of frequent headaches over the past 6 months along with slowly progressive loss of vision of the right eye. Lately the child has also staed having trouble in walking along with frequent mood changes and excessive thirst. MRI brain showed a tumour in the sellar region which was resected. HPE examination showed reticular epithelial cells that have appearances reminiscent of the enamel pulp of developing teeth along with calcifications and wet keratin nodules. The gene involved in causing the above condition is also involved in causing which other condition: - and explain in detail?
This is a case of Craniopharyngioma. Benign tumour Arise in sellar/suprasellar region Arise from vestigial remnants of Rathke's pouch Bimodal age distribution Presents with headache and visual disturbance May present with sho stature due to GH deficiency (Pituitary hypofunction). Most commonly due to abnormalities in WNT signaling pathway including the activating mutations of the beta-catenin. MRI image shows a mass in the suprasellar region- likely craniopharyngioma OTHER CANCERS DUE TO WNT PATHWAY Mutations in b-catenin are present in: - 50% of hepatoblastomas. 20% of Hepatocellular carcinomas GENES INVOLVED IN: - Melanoma- NRAS, FGF3, HST1 Neuroblastoma- N-MYC, ALK CML- ABL