Disease relevance of NMTC1

• We report both the identification of a new entity of FNMTC and the mapping of the responsible gene, named "TCO" (thyroid tumors with cell oxyphilia), in a French pedigree with multiple cases of multinodular goiter and NMTC [1].
• For differentiated, nonmedullary thyroid carcinoma, postsurgical ablation of thyroid remnants and treatment of residual tumor and metastases with 131I is a potentially curative therapy [2].
• Not well-known and inadequately understood is the high incidence of conexistent parathyroid adenoma and nonmedullary thyroid carcinoma [3].

High impact information on NMTC1

• These results indicate the existence of a susceptibility locus for familial NMTC on chromosome 2q21 [4].
• In a large Tasmanian pedigree (Tas1) with recurrence of papillary thyroid carcinoma (PTC), the most common form of NMTC, an extensive genomewide scan revealed a common haplotype on chromosome 2q21 in seven of the eight patients with PTC [4].
• Families with recurrence of nonmedullary thyroid cancer (NMTC) have been repeatedly reported in the literature, and epidemiological data show a very high relative risk for first-degree relatives of probands with thyroid cancer [1].
• The genetics of hereditary nonmedullary thyroid carcinoma [5].
• The familial form of nonmedullary thyroid carcinoma (NMTC) gives a more severe phenotype and appears earlier than its sporadic counterpart [6].

Biological context of NMTC1

• Allelic loss in tumor samples was evenly distributed in both 19p13.2 and 2q21 regions, in accordance with the established linkage of TCO and NMTC1 for inherited tumors [7].
• METHODS: We used linkage analysis to test the significance of two of the known susceptibility loci for fNMTC, TCO on 19p13 and NMTC1 on 2q21 in 10 fNMTC families, nine of which present with cell oxyphilia, a rare histological phenotype associated with TCO [8].
• Moreover, benign thyroid pathologies are often observed in NMTC kindreds [6].
• No significant association was seen with TSHR-P52T and TSHR-D727E genotypes and risk of NMTC [9].
• The purpose of this review is to provide an account of our present knowledge about the epidemiology of nonmedullary thyroid carcinoma, to discuss the effects of environment, lifestyle and radiation on the risk of developing thyroid cancer, and to discuss aspects on primary prevention of the disease [10].

Associations of NMTC1 with chemical compounds

• The average age of onset is about 38 years, and in some cases, it may be more aggressive than sporadic PTC; up to 5% of subjects with NMTC have a family history positive for the same disorder [11].

Other interactions of NMTC1

• Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer [8].
• Of 2,058 patients who had surgically proven primary hyperparathyroidism at the Mayo Clinic from 1965 through 1979, 51 or 2.5 percent had associated nonmedullary thyroid carcinoma [12].

Analytical, diagnostic and therapeutic context of NMTC1

• To estimate the familial risk of thyroid cancer, we conducted a hospital-based case-control study at the Princess Margaret Hospital in Toronto, Ontario, Canada, and at 2 university hospitals in Montréal, Québec, Canada. We obtained pedigrees from 339 unselected patients diagnosed with NMTC and from 319 unaffected ethnically matched controls [13].
• In the remaining 31 cases HPT was associated with nonmedullary thyroid carcinoma; all were treated by resection of parathyroid adenomas and thyroidectomy [14].

References