A 32-years old male with suspected neurofibroma, tosis was found to have a blood pressure of 178/110 mm Hg at a recent health fair. He complained of palpitations and excessive sweating. Today he presents to the clinic for a checkup because he has developed abdominal discomfo. His blood pressure is now recorded to be 130/80 mm Hg. Physical examination reveals multiple tumors of the oral mucosa and skin. Laboratory investigations reveal: Serum K+ : 3.8 mEq/L (N : 3.5-5.0 mEq/L) Serum Ca2+: 136 mEq/L (N : 135-145 mEq/I,) Serum Ca2+ : 9.4 mg/dL (N : 8.4-10.2 mg/dL) d 14) Genetic studies in this patient will most likely show -
The RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor (GDNF) family of extracellular signalling molecules.RET loss of function mutations are associated with the development of Hirschsprung's disease, while gain of function mutations are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia Ref Davidson 23rd edition pg 1057
N-myc amplification
Overexpression of C-kit
K-ras mutation
RET oncogene
Miscellaneous