Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies.
Multiple endocrine neoplasia (MEN) type 2A, a dominant inherited syndrome caused by germline activating mutations in the RET protooncogene, 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.
Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran. hengamehabdi@gmail.com.
Ali Asghar
AA
Ghazi
Kasra General Hospital, Tehran, Iran.
Mahmoud
M
Bagheri
Urology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ali
A
Tabibi
Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Farzaneh
F
Sarvghadi
Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hengameh
H
Abdi
Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mehdi
M
Hedayati
Department of Radiology, Taleghani General Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Marina
M
Pourafkari
Department of Pathology, Imam Khomeini General Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Farrokh
F
Tirgari
Carcinoid and Neuroendocrine Tumor Center, Cedar-Sinai Medical Center, UCLA, USA.
Run
R
Yu
D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D018278:Carcinoma, Neuroendocrine; D005190:Family; D005260:Female; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D010375:Pedigree; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human