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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 17, No. s2, 2007, pp. 301-305
Bioline Code: pe07060
Full paper language: Farsi
Document type: Research Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 17, No. s2, 2007, pp. 301-305

 en Detection of RET Proto-oncogene Cys634Arg Mutation, the Cause of Medullary Thyroid Carcinoma, in an Iranian Child
Alvandi, Ehsan; Pedram, Mehrdad; Soroush, Ahmad-Reza; Naier, Babak Noori & Akrami, Seyed Mohammad


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.

Medullary Thyroid Carcinoma , RET proto-oncogene , Germline mutations , Genetic counseling

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