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.
From the *Department of Clinical Sciences, University “Sapienza,” Rome, Italy; †Department of Nephrology, Albert-Ludwigs University, Freiburg, Germany; Departments of ‡Surgery “P. Valdoni,” and §Cutaneous Diseases and Plastic Surgery, University “Sapienza,” Rome, Italy.
Reprints: Prof. Claudio Letizia, MD, Department of Clinical Sciences, University of Rome “Sapienza” Policlinico “Umberto I,” Viale del Policlinico, 155, 00165 Rome, Italy. E-mail: email@example.com.