@article{oai:nagasaki-u.repo.nii.ac.jp:00010175, author = {Matsuse, Michiko and Sasaki, Kensaku and Nishihara, Eijun and Minami, Shigeki and Hayashida, Chisa and Kondo, Hisayoshi and Suzuki, Keiji and Saenko, Vladimir and Yoshiura, Koh-ichiro and Mitsutake, Norisato and Yamashita, Shunichi}, issue = {4}, journal = {PLoS ONE}, month = {Apr}, note = {The aim of the present study was to investigate chromosomal aberrations in sporadic Japanese papillary thyroid carcinomas (PTCs), concomitant with the analysis of oncogene mutational status. Twenty-five PTCs (11 with BRAF V600E, 4 with RET/PTC1, and 10 without mutation in HRAS, KRAS, NRAS, BRAF, RET/PTC1, or RET/PTC3) were analyzed using Genome-Wide Human SNP Array 6.0 which allows us to detect copy number alteration (CNA) and uniparental disomy (UPD), also referred to as copy neutral loss of heterozygosity, in a single experiment. The Japanese PTCs showed relatively stable karyotypes. Seven cases (28%) showed CNA(s), and 6 (24%) showed UPD(s). Interestingly, CNA and UPD were rarely overlapped in the same tumor; the only one advanced case showed both CNA and UPD with a highly complex karyotype. Thirteen (52%) showed neither CNA nor UPD. Regarding CNA, deletions tended to be more frequent than amplifications. The most frequent and recurrent region was the deletion in chromosome 22; however, it was found in only 4 cases (16%). The degree of genomic instability did not depend on the oncogene status. However, in oncogene-positive cases (BRAF V600E and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. These data suggest that Japanese PTCs may be classified into three distinct groups: CNA +, UPD +, and no chromosomal aberrations. BRAF V600E mutational status did not correlate with any parameters of chromosomal defects., PLoS ONE, 7(4), e36063; 2012}, title = {Copy Number Alteration and Uniparental Disomy Analysis Categorizes Japanese Papillary Thyroid Carcinomas into Distinct Groups}, volume = {7}, year = {2012} }