Abstract:
BACKGROUND:The results and consequences of genetic testing in a family with familial medullary thyroid carcinoma (FMTC) are described. METHODS:In the screening of relatives, serum calcitonin is replaced by RET mutation analysis that was performed in families suspected of hereditary medullary thyroid carcinoma (MTC). In 4 of 10 families, mutation in exon 10 was found in codon 611. RESULTS:One hundred fifty persons belonging to 30 families were tested, of which 10 families were carriers of RET mutation in exon 10. In 1 of these families with MTC only, 2 brothers were gene carriers of a RET codon 611 mutation and lived without any sign of MTC. One is aged 79 years, and the other died at the age of 71 of other causes. CONCLUSIONS:The results indicate that the gene carrier in families with MTC without other endocrine tumors (FMTC) exhibits a highly variable disease course. A 611 codon mutation is most often a rather mild and slow progression form of MTC. Because 2 gene carriers were still alive at age 70 years without showing any sign of the disease, it is tempting to ask if all gene carriers with a 611 codon mutation without other endocrine tumors should be operated on, and if so, at what age? In the authors' opinion, more information is needed to be able to answer these questions. The current guidelines for treatment of patients with hereditary MTC are discussed.
journal_name
Cancerjournal_title
Cancerauthors
Hansen HS,Torring H,Godballe C,Jäger AC,Nielsen FCsubject
Has Abstractpub_date
2000-08-15 00:00:00pages
863-7issue
4eissn
0008-543Xissn
1097-0142pii
10.1002/1097-0142(20000815)89:4<863::AID-CNCR19>3.journal_volume
89pub_type
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