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Array Comparative Genomic Hybridization of Enchondroma and Grade 1 Chondrosarcoma

内生软骨瘤和 1 级软骨肉瘤的芯片比较基因组杂交

基本信息

批准号：
18390417
负责人：
OZAKI Toshifumi
金额：
$ 3.82万
依托单位：
Okayama University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2006
资助国家：
日本
起止时间：
2006 至 2007
项目状态：
已结题

项目摘要

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 … More 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

背景与目的：内生软骨瘤与低度恶性软骨肉瘤组织学相似，病理诊断困难。阵列比较基因组杂交（CGH）是检测基因拷贝数变化的有效工具，为疾病的发生提供了重要信息。方法：应用微阵列CGH技术检测9例内生软骨瘤（endochondroma，EC）和8例1级软骨肉瘤（chondrosarcoma，CS）冰冻标本中基因组拷贝数的变化。分析内生软骨瘤和1级软骨肉瘤的基因组改变及其相关的遗传学改变，重点分析各组织学类型中超过一半的病例（EC：25/9例，CS：24/8例）的特异性拷贝数改变。有相似的拷贝数 ...更多信息两组之间的变化。阵列CGH显示内生软骨瘤中20个增加和14个丢失的特定遗传不平衡，1级软骨肉瘤中41个增加和16个丢失。基因拷贝数增加的区域分别为2q12.1-2（60%）、6p 22（60%）、7q11.2（53%）、15q13.2（53%）、21q22.1（60%）和22q13.3（60%），基因拷贝数丢失的区域分别为1q21.3（87%）、6p21.3（73%）、7q22.1（60%），19q13.2（67%）、20q11.2（93%）和20q13.1-2（80%）。在内生软骨瘤中检测到的特异性区域为9 q34和13 q12，在软骨肉瘤中检测到的特异性区域为11 p15. 4、12 q13. 2、17 q12和13 q14。在78%的内生软骨瘤中观察到WDR 5的增加。在所有I级软骨肉瘤中观察到CHK 2的增加，并且在75%中观察到DTX 3的增加。这些基因可能是与I级软骨肉瘤进展相关的候选基因。结论：我们证明了几个特定的基因组变异检测内生软骨瘤和1级软骨肉瘤使用阵列CGH，虽然有更多的相似的基因组变异两种肿瘤之间。在这项研究中，阵列CGH鉴定了I级CS中CHK 2、RARA和DTX 3的增加，以及内生软骨瘤中WDR 5的增加。CHK 2和WDR 5基因可能是I级CS和EC肿瘤进展的靶点。少

项目成果

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科研奖励数量（0）

会议论文数量（0）

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Array Comparative Genomic Hybridization of Enchondroma and Grade 1 Chondrosarcoma

内生软骨瘤和 1 级软骨肉瘤的芯片比较基因组杂交

DOI：
发表时间：
2007
期刊：
影响因子：
0
作者：
福井尚志;池田泰子;鈴木隆二;疋田温彦;桂川陽三;山本精三.;Fukui N and Sandell LJ.;Mitsuyoshi G;中原龍一;Toshifumi Ozaki;Toshiyuki Kunisada;Yoshida A
通讯作者：
Yoshida A

Scintigraphic assessment for staging cartilage tumors.

软骨肿瘤分期的闪烁扫描评估。

DOI：
发表时间：
2007
期刊：
影响因子：
0
作者：
福井尚志;池田泰子;鈴木隆二;疋田温彦;桂川陽三;山本精三.;Fukui N and Sandell LJ.;Mitsuyoshi G;中原龍一;Toshifumi Ozaki;Toshiyuki Kunisada
通讯作者：
Toshiyuki Kunisada

Accurate diagnosis of musculoskeletal lesions by core needle biopsy