|
Several reports were
communicated about this item. Boztepe et al.,
Istanbul, Turkey, and Hamburg, Germany, reported on genetic
screening of 3 families with MEN IIA consisting of 40 members in
total and 1 family with MEN IIB consisting of 9 members, all
living in Turkey. In 2 families with MEN IIA a mutation was
detected in exon 10, codon 618, and in the other family in exon
11, codon 634. In the family with MEN IIB the mutation was
present in exon 16, codon 918.
Bottici et al., Pisa, Italy, analysed since 1993, 257 subjects comprised of 148 members of 22 pedigrees (12 MEN IIA, 4 MEN IIB, and 6 FMTC) and 109 patients with sporadic medullary thyroid carcinoma (MTC). 11/12 MEN IIA pedigrees carried a mutation in exon 11, codon 634, and no mutation was found in 1/12 MEN IIA pedigrees. In 4/4 MEN IIB pedigrees a mutation was found in exon 16, codon 918, and in all the FMTC pedigrees mutations were found either in exon 10, 13, or 14. In the patients with sporadic MTC still 5 patients were found that had to be reclassified to hereditary MTC on the basis of genetic analysis. Wiench et al., Gliwice, Warsaw and Cracow, Poland, analysed 120 patients with MTC and 100 of their relatives. In families with MEN IIA/FMTC, RET gene mutations in exon 11, codon 634 with different substitutions were found in 9 families. In 2 such families in exon 10, codon 611, and in 1 family in exon 10, codon 620. In all the 5 families studied with MEN IIB a similar RET gene mutation was found in exon 16, codon 918. Pacini et al., Pisa, Italy, report on the results of calcitonin (CT) measurement in 10,864 patients with nodular thyroid disease, screened between 1991 and 1998. MTC was diagnosed in 45 patients, 42/45 with non-toxic nodular goitre, 1/45 with a nodular variant of Hashimoto’s thyroiditis, and 2/45 with toxic multinodular goitre. Cytology confirmed diagnosis in only 20/45 cases (44.4%). The authors conclude that screening nodular thyroid diseases for MTC using CT serum measurement is a specific and sensitive method and should be routinely performed. From their results cytology has low sensitivity. (Comment: The prevalence of MTC in the total patient group is 0.4%. Calculation of the cost/benefit for routine calcitonin measurement in these patients is of value.) |
