Cytogenetic and Molecular Genetic Studies of Follicular and Papillary Thyroid Cancers

Cytogenetic studies have shown frequent clonal abnormalities in papillary carcinoma (PFC) and follicular carcinoma (FEC). Loss of heterozygosity (LOH) may suggest the presence of tumor suppressor genes and has not been reported in these neoplasms. These studies were undertaken to determine if consistent chromosomal abnormalities are associated with thyroid cancer, to determine likely regions for molecular ge-netic investigations, and to determine if there is allelic loss in thyroid tumors. Cytogenetic analysis of 26 PFC and 5 FTC showed clonal abnormalities in 9 and included-Y, +5, or inv(10Xqll.2q21.2) in PFC, and-Y or near haploidy in FEC. Using DNA probes specific for chromosomes 1, 3, 10, 16, and 17, we carried out restriction fragment length polymorphism analysis on 6 FTC, 3 follicular adenomas (FA), and 12 PTC. LOH of all informative loci on chromosome 3p was observed in all 6 FTC, but not in FA or PFC. NoLOH was observed for loci mapped to chromosome 10 in PFC. Our results suggest: cytoge-netic abnormalities of chromosome 10q are associated with PTC; cytogenetic and molecular abnormalities of chromosome 3 are associated with FTC; and a tumor suppressor gene may be present on the short arm of chromosome 3 important for the development or progression of FEC. (J. Clin. Invest. 1991. 88:1596-1604.) Key words: chromosome analysis * tumorigen-esis * carcinoma * endocrine tumors * neoplasi