Author/Authors :
Ghazi, Ali Asghar shahid beheshti university of medical sciences - Endocrine Research Center, Research Institute for Endocrine Sciences, تهران, ايران , Bagheri, Mahmoud Kasra General Hospital, ايران , Tabibi, Ali shahid beheshti university of medical sciences - Urology Research Center, تهران, ايران , Sarvghadi, Farzaneh shahid beheshti university of medical sciences - Endocrine Research Center, Research Institute for Endocrine Sciences, تهران, ايران , Abdi, Hengameh shahid beheshti university of medical sciences - Endocrine Research Center, Research Institute for Endocrine Sciences, تهران, ايران , Hedayati, Mehdi shahid beheshti university of medical sciences - Endocrine Research Center, Research Institute for Endocrine Sciences, تهران, ايران , Pourafkari, Marina shahid beheshti university of medical sciences - Taleghani General Hospital - Department of Radiology, تهران, ايران , Tirgari, Farrokh tehran university of medical sciences tums - Imam Khomeini General Hospital - Department of Pathology, تهران, ايران , Yu, Run University of California, Los Angeles - Carcinoid and Neuroendocrine Tumor Center, Cedar-Sinai Medical Center, USA
Abstract :
Multiple endocrine neoplasia (MEN) type 2A, a dominant inherited syndrome caused by germline activating mutations in the RET proto-oncogene, is characterized by association of medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism. There is limited data on this disease in the Middle East region. In this paper, we present clinical and genetic studies of an Iranian patient and her family members. The patient was a 49-year old Iranian woman who presented with hypertension due to bilateral pheochromocytoma. She had history of a medullary carcinoma of thyroid which had been operated 28 years ago. Analysis of the RET gene in the family revealed a C634R mutation in codon 11 and 3 polymorphisms, G691S, S836S and S904S in codons 11, 14 and 15, respectively, that might have been important in modifying the clinical picture. Due to paucity of information on MEN type 2 in the area, this study can be helpful in portraying the clinical and cytogenetic characteristics of the disease in the region.
