Paper Information

Journal:   IRANIAN JOURNAL OF PEDIATRICS   OCTOBER 2007 , Volume 17 , Number 2 (SUPPLEMENT); Page(s) 301 To 305.
 
Paper: 

DETECTION OF RET PROTO-ONCOGENE CYS634ARG MUTATION, THE CAUSE OF MEDULLARY THYROID CARCINOMA, IN AN IRANIAN CHILD

 
 
Author(s):  ALVANDI E., PEDRAM MEHRDAD, SOROUSH A.R., NOURI NAYER B., AKRAMI S.M.*
 
* DEPARTMENT OF GENETICS, FACULTY OF MEDICINE, POURSINA, ST., TEHRAN, IR IRAN
 
Abstract: 

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. Gemurmline tations 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 Cys 634 Arg 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.

 
Keyword(s): MEDULLARY THYROID CARCINOMA, RET PROTO-ONCOGENE, GERMLINE MUTATIONS, GENETIC COUNSELING
 
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