Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant disease with an incidence of approximately 1 in 3000 individuals. Patients suffering from NF1 are exposed to an increased risk of developing benign and malignant tumors. Multiple endocrine neoplasia type 2 and its components are rare observations in NF1 patients, but of specific interest, since these neoplasia are of neuroendocrine origin.A 37-year-old male patient with NF1 presented with attacks of sweating, headaches, palpitations, and hypertensive episodes. Pheochromocytoma was diagnosed clinically and histopathologically. An evaluation for hypercalcemia revealed hyperparathyroidism and a thyroid tumor associated with hypercalcitoninemia. Complete thyroidectomy and parathyroidectomy confirmed parathyroid adenoma and medullary thyroid carcinoma. EDTA anticoagulated blood was screened for germline mutations of the NF1 and RET genes. In NF1, the mutation c.1466A>G (p.Tyr489Cys) was found and no RET mutation was detected.This is apparently the first case disclosing the full spectrum of multiple endocrine neoplasia type 2A in a patient with NF1.
Coincidence of neurofibromatosis type 1 and multiple endocrine neoplasia type 2
Polistena, Andrea;
2008
Abstract
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant disease with an incidence of approximately 1 in 3000 individuals. Patients suffering from NF1 are exposed to an increased risk of developing benign and malignant tumors. Multiple endocrine neoplasia type 2 and its components are rare observations in NF1 patients, but of specific interest, since these neoplasia are of neuroendocrine origin.A 37-year-old male patient with NF1 presented with attacks of sweating, headaches, palpitations, and hypertensive episodes. Pheochromocytoma was diagnosed clinically and histopathologically. An evaluation for hypercalcemia revealed hyperparathyroidism and a thyroid tumor associated with hypercalcitoninemia. Complete thyroidectomy and parathyroidectomy confirmed parathyroid adenoma and medullary thyroid carcinoma. EDTA anticoagulated blood was screened for germline mutations of the NF1 and RET genes. In NF1, the mutation c.1466A>G (p.Tyr489Cys) was found and no RET mutation was detected.This is apparently the first case disclosing the full spectrum of multiple endocrine neoplasia type 2A in a patient with NF1.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
