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骨肉瘤的遗传学

The genetics of osteosarcoma.

作者信息

Martin Jeff W, Squire Jeremy A, Zielenska Maria

机构信息

Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8.

出版信息

Sarcoma. 2012;2012:627254. doi: 10.1155/2012/627254. Epub 2012 May 20.

Abstract

Osteosarcoma is a primary bone malignancy with a particularly high incidence rate in children and adolescents relative to other age groups. The etiology of this often aggressive cancer is currently unknown, because complicated structural and numeric genomic rearrangements in cancer cells preclude understanding of tumour development. In addition, few consistent genetic changes that may indicate effective molecular therapeutic targets have been reported. However, high-resolution techniques continue to improve knowledge of distinct areas of the genome that are more commonly associated with osteosarcomas. Copy number gains at chromosomes 1p, 1q, 6p, 8q, and 17p as well as copy number losses at chromosomes 3q, 6q, 9, 10, 13, 17p, and 18q have been detected by numerous groups, but definitive oncogenes or tumour suppressor genes remain elusive with respect to many loci. In this paper, we examine studies of the genetics of osteosarcoma to comprehensively describe the heterogeneity and complexity of this cancer.

摘要

骨肉瘤是一种原发性骨恶性肿瘤,相对于其他年龄组,在儿童和青少年中的发病率特别高。这种通常具有侵袭性的癌症的病因目前尚不清楚,因为癌细胞中复杂的结构和数字基因组重排妨碍了对肿瘤发展的理解。此外,很少有一致的基因变化可能表明有效的分子治疗靶点。然而,高分辨率技术不断提高我们对基因组中更常与骨肉瘤相关的不同区域的认识。多个研究小组检测到1p、1q、6p、8q和17p染色体上的拷贝数增加,以及3q、6q、9、10、13、17p和18q染色体上的拷贝数减少,但许多位点的明确致癌基因或肿瘤抑制基因仍然难以确定。在本文中,我们研究了骨肉瘤遗传学的相关研究,以全面描述这种癌症的异质性和复杂性。

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