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Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?
Author(s) -
Hansen Hanne Sand,
Tørring Helle,
Godballe Christian,
Jäger Anne Charlotte,
Nielsen Finn Cilius
Publication year - 2000
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/1097-0142(20000815)89:4<863::aid-cncr19>3.0.co;2-z
Subject(s) - medicine , multiple endocrine neoplasia , medullary thyroid cancer , mutation , medullary cavity , thyroid carcinoma , thyroidectomy , multiple endocrine neoplasia type 2 , exon , genetic counseling , cancer , calcitonin , thyroid , germline mutation , oncology , genetics , gene , biology
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. Cancer 2000;89:863–7. © 2000 American Cancer Society.