NABIPOUR I, HAJI-GHASEMI F, KIAI S, BARADAR-JALILI R, AZIZI F. THE MUTATIONS OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMAS IN IRAN. Med J Islam Repub Iran 2004; 18 (2) :95-99
URL:
http://mjiri.iums.ac.ir/article-1-624-en.html
From the Endocrine Research Center; Shaheed Beheshti University of Medical Sciences, Tehran, the Persian Gulf Health Research Center; Bushehr University of Medical Sciences, Bushehr and the Endocrine Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Abstract: (4209 Views)
MeduIIary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal
dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The
distinction between true sporadic MTC and a new mutation familial case is important
for future clinical management of both the patient and family. The susceptibility gene for
hereditary MTC is the RET proto-oncogene. DNA analysis for germline mutations of
the RET proto-oncogene was performed in a series of 24 patients with MTC [apparently
sporadic MTC (20 cases), familial MTC (2 cases), MEN 2A (one case) and
MEN 2B (one case)] to determine whether they were true sporadic cases or hereditary
forms. Genomic DNA was amplified using polymerase chain reaction (PCR) and
oligonucleotide primers for exons 10 & I 1. The PCR products were examined by
restriction enzymes analysis to detect the mutations. One of the 20 patients with apparent
sporadic MTC had exon 10 mutation (Cys-620 Arg) and exon I I mutation (Cys-
634 Trp) was also found in the index case with MEN 2A. No mutation was detected in
the other patients. Three of six evaluated members of the MEN 2A patient had the
same mutation. We conclude that routine application of RET proto-oncogene testing
should be included in all cases of apparent sporadic MTC.