A 29-year-old woman with medullary thyroid carcinoma presents with hypertension (BP 158/96 mmHg), tachycardia (HR 104/min), and anxiety. Laboratory studies reveal elevated 24-hour urinary metanephrines (450 μg/24h), hypercalcemia (11.2 mg/dL), and parathyroid hormone level of 78 pg/mL consistent with parathyroid hyperplasia on imaging. She denies recent weight loss. Which genetic abnormality is most likely responsible for these findings?
- A)Inactivating mutation of the calcium sensing receptor
- B)Activating mutation of RET proto oncogeneGABARITO
- C)Mutation of VHL tumor suppressor gene
- D)Inactivating mutation of MEN1
- E)Mutation of NF1 tumor suppressor gene
Explicação
MEN 2A is caused by an activating mutation of the RET proto oncogene. The syndrome includes medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia. Recognizing the RET association is clinically important because affected family members requ... Ver explicação completa e trilha adaptativa →