A 20-year-old woman with Hirschsprung disease presents with acute leg pain. The patient had a glioma resected 3 years ago. An X-ray film of the leg reveals a fracture of the left tibia. Laboratory studies show elevated serum levels of calcium and PTH. A CT scan of the patient’s neck demonstrates a solitary parathyroid mass. Two years later, the patient presents with hypeension, and a CT scan of the abdomen displays a 4-cm mass in the right adrenal. Genetic studies conducted on this patient would likely reveal germline mutations in which of the following protooncogenes?
Correct Answer: RET
Description: - Given clinical features suggests the diagnosis of multiple endocrine neoplasia (MEN) syndrome a/w parathyroid adenoma. - Patients with MEN syndromes types 1 & 2 have gene mutations that make them susceptible to neoplasia or hyperplasia in multiple organs. MEN-1 / WERMER SYNDROME MEN-2A / SIPPLE SYNDROME - Mutation of MEN1 - A/W Pituitary adenoma Parathyroid adenoma/ hyperplasia Pancreatic islet cell tumors -Mutation of RET , transmembrane receptor of tyrosine kinase family. -A/W Medullary thyroid cancer Pheochromocytoma Parathyroid adenoma/ hyperplasia - Hirschsprung disease (congenital megacolon) - Neural crest tumors (glioma)
Category:
Pathology
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