ABSTRACT
<p><b>OBJECTIVE</b>To investigate the characteristics of RET/PTC and H47PTEN rearrangement and the association between gene rearrangement and clinicopathological properties of thyroid carcinoma.</p><p><b>METHODS</b>Rearrangement of RET/PTC-1, RET/PTC-2, RET/PTC-3, ELKS-RET and H4-PTEN (H4/PTEN and PTEN/H4) was analyzed in 139 thyroid tumor tissues by using RT-PCR and sequencing.</p><p><b>RESULTS</b>Twelve RET/PTC-1, 6 RET/PTC-3, 6 H4/PTEN and 7 PTEN/H4 were detected in 126 papillary thyroid carcinomas. In 3 cases, both RET/PTC and H4-PTEN were identified simultaneously. However, repeated experiments did not give the same results of H4-PTEN rearrangement. The overall frequency of rearrangement was 21.4% (27/126). The patients with gene rearrangement were younger (P = 0.02) and had a higher frequency of lymph node involvement (P = 0.02). High frequency of lateral neck lymph node involvement was detected in RET/PTC positive PTC (P < 0.01). PTEN/H4 rearrangement could also be detected in medullary thyroid carcinoma (2/5).</p><p><b>CONCLUSIONS</b>H4-PTEN rearrangement can occur simultaneously with RET/PTC rearrangement in PTC. High predisposition to gene rearrangement is a characteristic of PTC. The patients of PTC with gene rearrangement are younger and have a higher frequency of lymph node involvement.</p>