OBJECTIVE: To report the case of a patient with multiple endocrine neoplasia type 1 (MEN 1) syndrome with con-comitant parathyroid carcinoma and a classic MEN1 germline mutation. METHODS: We present the clinical findings, laboratory results, imaging studies, and surgical histopathologic features in a woman with MEN 1 syndrome and concomitant parathyroid carcinoma. We also review the literature regarding patients with similar clinical entities and the use of adjuvant radiotherapy for parathyroid carcinoma. RESULTS: A 53-year-old woman presented with nausea and severe primary hyperparathyroidism. Computed tomography revealed parathyroid masses, shown later to be bilateral parathyroid carcinomas and adenomas. Magnetic resonance imaging demonstrated a pituitary macroadenoma, and gastrinomas were confirmed by computed tomography and a secretin stimulation test. She was successfully treated with total thyroidectomy, subtotal parathyroidectomy, and adjuvant radiotherapy. Genetic analysis revealed a classic MEN1 germline mutation. CONCLUSION: This report describes a patient with parathyroid carcinoma occurring in conjunction with MEN 1, further characterizing this rare condition. In contrast to previously described patients, our patient is the first with a classic MEN1 germline mutation, confirming that parathyroid cancer can occur in association with classic MEN 1 genetics.
OBJECTIVE: To report the case of a patient with multiple endocrine neoplasia type 1 (MEN 1) syndrome with con-comitant parathyroid carcinoma and a classic MEN1 germline mutation. METHODS: We present the clinical findings, laboratory results, imaging studies, and surgical histopathologic features in a woman with MEN 1 syndrome and concomitant parathyroid carcinoma. We also review the literature regarding patients with similar clinical entities and the use of adjuvant radiotherapy for parathyroid carcinoma. RESULTS: A 53-year-old woman presented with nausea and severe primary hyperparathyroidism. Computed tomography revealed parathyroid masses, shown later to be bilateral parathyroid carcinomas and adenomas. Magnetic resonance imaging demonstrated a pituitary macroadenoma, and gastrinomas were confirmed by computed tomography and a secretin stimulation test. She was successfully treated with total thyroidectomy, subtotal parathyroidectomy, and adjuvant radiotherapy. Genetic analysis revealed a classic MEN1 germline mutation. CONCLUSION: This report describes a patient with parathyroid carcinoma occurring in conjunction with MEN 1, further characterizing this rare condition. In contrast to previously described patients, our patient is the first with a classic MEN1 germline mutation, confirming that parathyroid cancer can occur in association with classic MEN 1 genetics.
Authors: Kristóf Árvai; Katalin Nagy; Helga Barti-Juhász; István Peták; Tibor Krenács; Tamás Micsik; Gyula Végső; Ferenc Perner; Béla Szende Journal: Pathol Oncol Res Date: 2011-12-24 Impact factor: 3.201
Authors: Wai Kwan Siu; Chun Yiu Law; Ching Wan Lam; Chloe Miu Mak; Gary Wing Kin Wong; Andrew Yiu Yan Ho; Kwok Yip Ho; Ka Tai Loo; Sin Chuen Chiu; Louis Tsun Cheung Chow; Sui Fan Tong; Albert Yan Wo Chan Journal: Fam Cancer Date: 2011-12 Impact factor: 2.375
Authors: Sahzene Yavuz; William F Simonds; Lee S Weinstein; Michael T Collins; Electron Kebebew; Naris Nilubol; Giao Q Phan; Steven K Libutti; Alan T Remaley; Manuel Van Deventer; Stephen J Marx Journal: J Clin Endocrinol Metab Date: 2012-04-16 Impact factor: 5.958