ABSTRACT
Purpose To investigate the consistency and clinicopathologic correlation of BRAFV600E protein expression and gene mutation in papillary thyroid carcinoma. Methods BRAFV600E protein expression and genn mutation was detected respectively by immunohistochemistry of SP and real time-PCR, then the consistency between the both methods was analyzed by Kappa-test, the correlation between BRAFV600E and clinicopatho-logic parameters was analyzed by Chi-square test in papillary thyroid carcinoma. Results The gene mutation and protein expression rates of BRAFV600E were 89.3％ and 88.3％, respec-tively, the differences were not significant, the concordance rate of the both methods was 97.0％, Kappa value was 0.847, the consistence was higher, meanwhile the mutation rates between age ＜45 and ≥45 were respectively 96.8％ and 85.9％, there were significant differences, the positive rates of the both detec-tion methods were higher in thyroid capsule invaded group than non-invaded group, the differences were significant. Conclusion The both methods have higher consistency, the immunohisto-chemistry can be used as an initial screening tool for detecting gene mutation, the gene mutation of BRAFV600E is significantly associated with age and capsule invasion, the relationship is not found between BRAFV600E mutation and the other clinicopatholog-ic parameters.
ABSTRACT
<p><b>OBJECTIVE</b>To study the loss of heterozygosity (LOH) on chromosome 3p in thyroid tumors.</p><p><b>METHODS</b>LOH at 11 microsatellite loci was analyzed in 74 cases of thyroid tumors (including 20 follicular adenomas, 24 follicular thyroid carcinomas and 30 papillary thyroid carcinomas) by polymerase chain reaction and silver stain.</p><p><b>RESULTS</b>LOH on chromosome 3p was detected in 71% of follicular thyroid carcinoma (17/24), 30% of the papillary thyroid carcinoma (9/30) and 10% of the follicular adenoma (2/20) case. Two minimal common deleted regions (CDR) (3p26-pter and 3p14.2-3p22) involving significant sites of LOH has identified in follicular thyroid carcinoma. There was also one CDR (3p25. 2-26.1) in papillary thyroid carcinoma.</p><p><b>CONCLUSIONS</b>LOH is more frequently identified in follicular thyroid carcinoma than in papillary thyroid carcinoma and follicular adenoma. The 3 CDR on chromosome 3p may harbor tumor suppressor genes involved in the pathogenesis of follicular thyroid carcinoma and papillary thyroid carcinoma.</p>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Adenocarcinoma, Follicular , Genetics , Adenoma , Genetics , Carcinoma, Papillary , Genetics , Chromosome Mapping , Chromosomes , Chromosomes, Human, Pair 3 , Genetics , Genes, Tumor Suppressor , Physiology , Heterozygote , Loss of Heterozygosity , Microsatellite Repeats , Thyroid Neoplasms , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To develop a protocol for gene rearrangement study in non-Hodgkin's lymphoma (NHL) by PCR-directed gel-scan method and to set up quantitative criteria for IgH gene rearrangement which can be applied in the follow up of lymphoma patients.</p><p><b>METHODS</b>IgH gene rearrangement studies were carried out in 96 cases of B-cell NHL. The detection rate of clonality was evaluated. Sixty-five cases of IgH gene rearranged cases proven by FR3A-directed PCR and PAGE and 8 cases of benign lymphoid tissues (5 cases of reactive lymphoid hyperplasia, 3 cases of chronic tonsillitis), 5 cases of normal peripheral blood mononuclear cells were analyzed by gel-scan method and the proportion of h1/h2 (heights of peak1 and peak2 of gel-scan) was calculated.</p><p><b>RESULTS</b>The detection rate of IgH gene clonality was up to 68% using primer FR3A in the 96 B-cell NHL cases. The detection rate was up to 61% using primer FR2A. With a combination of primers FR3A and FR2A, the detection rate increased to 83%. Gel-scan curve showed that the value of h1/h2 was greater than 3 in all the 65 cases with IgH gene rearranged. In the 8 benign lymphoid tissue cases showed h1/h2 < 1.5, 5 cases with normal peripheral blood mononuclear cells showed a bell-shaped curve.</p><p><b>CONCLUSIONS</b>In the gel-scan curve of gene rearrangement studies in non-Hodgkin's lymphoma samples, the value of h1/h2 greater than 3 represents a true clonal proliferation. The peaks with relative heights less than 1.5 may not be significant and likely represent polyclonal cell population. A value between 1.5 and 3 however requires clinical follow-up. The success rate of rearrangement studies in B-cell NHL can be increased by using a combination of primers FR3A and FR2A.</p>