%0 Journal Article
%T Detection of RET Proto-Oncogene Cys634Arg Mutation, the Cause of Medullary Thyroid Carcinoma, in an Iranian Child
%A Ehsan Alvandi
%A Mehrdad Pedram
%A Ahmad-Reza Soroush
%A Babak Noori Naier
%J Iranian Journal of Pediatrics
%D 2007
%I 
%X Objective: Medullary Thyroid Carcinoma (MTC) is hereditary in 25% of cases, and occurs primarily in an autosomal dominant manner. Thus, siblings and offspring of a patient diagnosed with a germline mutation are at a 50% risk for carrying the same mutation. Germline mutations of RET proto-oncogene is the known cause of almost all hereditary MTCs. Mutation analysis of RET is necessary for all apparently sporadic MTC patients.Cases Presentation: In this study, three siblings diagnosed with MTC in a family were analyzed for RET mutations. The result of direct DNA sequencing showed Cys634Arg point mutation in all 3 of them. Screening of their offspring and 4th sibling resulted in identification of a 3-year-old boy as a mutation carrier. According to general consensus, he is at second risk level, which qualifies him for prophylactic total thyroidectomy.Conclusion: Molecular analysis of RET proto-oncogene should be done in a routine manner to differentiate hereditary MTC patients from sporadic ones. In case of finding a germline mutation, all siblings and offspring of the mutation carrier should be screened and asymptomatic carriers referred to total prophylactic thyroidectomy.
%K Medullary Thyroid Carcinoma
%K RET Proto-Oncogene
%K Germline Mutations
%K Genetic Counseling
%U http://diglib.tums.ac.ir/pub/magmng/pdf/4844.pdf