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What is Pheochromocytoma is a feature of all of the following except: September 2007 and explain in detail?
Ans. A: MEN I syndrome Pheochromocytoma are known to occur in ceain familial syndromes. These include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and Von Hippel-Lindau syndrome. The MEN 2A and 2B syndromes, which are autosomal dominantly inherited, have been traced to germline mutations in the ret (rearranged in transfection) proto-oncogene. The ret proto-oncogene, located on chromosome 10, encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. Pheochromocytomas occur bilaterally in the MEN syndromes in as many as 70% of cases. MEN 2A (Sipple syndrome) is characterized by medullary thyroid carcinoma, hyperparathyroidism, pheochromocytomas, and Hirschsprung disease. Over 95% of cases of MEN 2A are associated with mutations in the ret proto-oncogene affecting 1 of 5 codons in exon 10. MEN 2B is characterized by medullary thyroid carcinoma, pheochromocytoma, mucosal neurofibromatosis, intestinal ganglioneuromatosis, Hirschsprung disease, and a marfanoid body habitus. A germline missense mutation in the tyrosine kinase domain of the ret proto-oncogene (exon 16, codon 918) has been repoed to be present in 95% of patients with MEN 2B.