| Research Abstract |
Background and Aims: It is difficult to make pathological diagnosis between enchondroma and low grade chondrosacoma because of similar histology. Array comparative genomic hybridization (CGH), which is a useful tool to detect various gains and losses of gene copy number, provides important information about the genesis of specific diseases. We performed array CGH to identify the difference of genomic alterations between enchondroma and grade 1 chondrosarcoma.
Methods: We performed array CGH to assess the copy number changes in frozen specimens of 9 enchondroma (EC) and 8 grade 1 chondrosarcoma (CS),those were collected surgically and diagnosed histologically. We analyzed genomic alterations of enchondroma and grade 1 chondrosarcoma and those related genetic changes, and focused on the specific copy number change detected in more than half cases of each histological type (EC:〓25/9 cases, CS:〓24/8cases).
Results: Genetic imbalances were found in all samples. There were similar copy number
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changes between two groups. Array CGH showed specific genetic imbalances of20 gains and 14 losses in enchondroma, and 41 gains and 16 losses in grade 1 chondrosarcoma. The most common regions of gain of gene copy in both samples were 2q12.1-2(60%),6p22(60%),7q11.2(53%),15q13.2( 53%),21q22.1(60%)and 22q13.3(60%),and the most common regions of loss were 1q21.3(87%),6p21.3( 73%),7q22.1(60%), 19q13.2(67%),20q11.2( 93%),and 20q13.1-2(80%). The specific regions detected in enchondroma were 9q34 and 13q12, and those detected in those chondrosarcoma,11p15.4,12q13.2,17q12, and 13q14. Gain of WDR5 was observed in seventy-eight percent of enchondroma. Gain of CHK2 was observed in all grade I chondrosarcoma, and gain of DTX3 was observed in seventy-five percent. These genes may be candidate genes related to the progression of grade I chondrosarcoma.
Conclusion: We demonstrated several specific genomic alternations detected in enchondroma and grade 1 chondrosarcoma using array CGH, although there were more similar genomic alterations between both tumors. In this study, array-CGH identified gain of CHK2, RARA, and DTX3 in grade I CS, and gain of WDR5 in enchondroma. CHK2 and WDR5 gene may be a target of tumor progression in grade I CS and EC. Less
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