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: –
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: –
π‘ Explanation
**Core Concept**
The question describes a case of a child with a sellar region tumor, exhibiting symptoms such as vision loss, headaches, and mood changes, ultimately leading to the diagnosis of a specific type of tumor based on histopathological examination (HPE). The question also asks about the association of a particular gene with another condition.
**Why the Correct Answer is Right**
The tumor described in the case is likely a Craniopharyngioma, a type of brain tumor that arises from the pituitary gland. The histopathological features mentioned, such as reticular epithelial cells, calcifications, and wet keratin nodules, are characteristic of this tumor. Craniopharyngiomas are often associated with mutations in the CTNNB1 gene, which encodes for beta-catenin. Interestingly, mutations in the CTNNB1 gene are also implicated in the development of Hepatocellular Carcinoma (HCC), a type of liver cancer. This association is due to the role of beta-catenin in the Wnt signaling pathway, which is involved in cell proliferation and differentiation.
**Why Each Wrong Option is Incorrect**
**Option A:** Hepatocellular carcinoma is the correct answer, as discussed above.
**Option B:** Melanoma is a type of skin cancer that is associated with mutations in genes such as BRAF and NRAS, but not CTNNB1.
**Option C:** Neuroblastoma is a pediatric cancer that arises from the adrenal glands and is associated with mutations in genes such as ALK and MYCN, but not CTNNB1.
**Option D:** Chronic Myeloid Leukemia (CML) is a type of blood cancer that is associated with mutations in the BCR-ABL gene, but not CTNNB1.
**Clinical Pearl / High-Yield Fact**
It is essential to remember that the CTNNB1 gene plays a crucial role in the Wnt signaling pathway, which is involved in cell proliferation and differentiation. Mutations in this gene are associated with various cancers, including Craniopharyngioma and Hepatocellular Carcinoma. Understanding the molecular mechanisms underlying these cancers is critical for developing targeted therapies.
**β Correct Answer: A. Hepatocellular carcinoma**
β Correct Answer: A. Hepatocellular carcinoma
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